Variant report

Variant	rs999571
Chromosome Location	chr11:67799266-67799267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67796701-67799318	K562	blood:	n/a	n/a
2	POLR2A	chr11:67795660-67799884	HepG2	liver:	n/a	n/a
3	MAX	chr11:67799016-67799297	K562	blood:	n/a	n/a
4	POLR2A	chr11:67799041-67800609	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:67797518-67799531	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:67799056-67799730	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr11:67799022-67799551	K562	blood:	n/a	n/a
8	POLR2A	chr11:67796635-67800560	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67797558..67799338-chr11:67885991..67888361,2	K562	blood:
2	chr11:67797762..67803553-chr11:67979125..67981829,6	MCF-7	breast:
3	chr11:67796203..67799766-chr11:67888971..67890534,5	MCF-7	breast:
4	chr11:67796548..67799452-chr11:67888689..67890440,2	K562	blood:
5	chr11:67795954..67799796-chr11:67979267..67982361,5	MCF-7	breast:
6	chr11:67796973..67799745-chr11:67886868..67889859,3	MCF-7	breast:
7	chr11:67798014..67799610-chr11:67799781..67801892,2	K562	blood:
8	chr11:67776633..67779501-chr11:67798153..67800329,2	K562	blood:

No data

Variant related genes	Relation type
NDUFS8	TF binding region
MIR4691	TF binding region
ENSG00000255306	TF binding region
ENSG00000006534	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000266737	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000110717	Chromatin interaction
ENSG00000255236	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1122731	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2075626	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs3764821	0.85[JPT][hapmap]
rs3808971	0.84[AMR][1000 genomes]
rs4147777	0.87[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
7	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
8	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
9	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
10	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
11	nsv1047567	chr11:67747160-67819790	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
12	nsv8836	chr11:67752879-67819799	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
13	nsv897836	chr11:67757350-67816936	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
14	nsv897837	chr11:67757350-67821036	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
15	nsv897838	chr11:67757350-67833543	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
16	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
17	nsv1050471	chr11:67764068-67821610	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
18	nsv468614	chr11:67765056-67799926	ZNF genes & repeats Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
19	nsv897840	chr11:67765056-67804605	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
20	nsv468615	chr11:67765056-67816936	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
21	nsv555278	chr11:67765056-67816936	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
22	nsv897841	chr11:67765056-67816936	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
23	nsv469964	chr11:67765056-67821036	Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
24	nsv897842	chr11:67765056-67821036	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
25	nsv897843	chr11:67765056-67833543	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
26	nsv1046054	chr11:67768796-67819790	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
27	nsv897845	chr11:67774231-67821036	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
28	nsv897847	chr11:67776465-67804605	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
29	nsv555279	chr11:67789553-67816936	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
30	nsv897848	chr11:67789837-67816936	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
31	nsv897849	chr11:67789837-67821036	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
32	nsv897850	chr11:67793014-67805381	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
33	nsv555280	chr11:67793014-67816936	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
34	nsv897851	chr11:67793448-67821036	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
35	nsv897852	chr11:67795066-67833543	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
36	nsv555281	chr11:67796691-67821036	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
37	nsv555282	chr11:67798567-67818325	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs999571	KCNK4	cis	cerebellum	SCAN
rs999571	SPDYC	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67797000-67799400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:67797200-67799400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:67797200-67799400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:67797200-67799600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:67797400-67799400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:67797400-67799400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:67797400-67799600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:67798200-67799400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr11:67798200-67799400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:67798200-67799800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:67798400-67799400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr11:67798400-67799400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:67798400-67799400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:67798400-67799400	Flanking Active TSS	HUVEC	blood vessel
15	chr11:67798400-67799600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:67798400-67799600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr11:67798400-67799600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:67798600-67799400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:67798600-67799400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:67798600-67799400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:67798600-67799400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr11:67798600-67799400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr11:67798600-67799400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:67798600-67799400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:67798600-67799400	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr11:67798600-67799400	Flanking Active TSS	Thymus	Thymus
27	chr11:67798600-67799400	Flanking Active TSS	Osteobl	bone
28	chr11:67798600-67799600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:67798600-67799600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:67798600-67799600	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr11:67798600-67799600	Flanking Active TSS	Colonic Mucosa	Colon
32	chr11:67798600-67799600	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr11:67798600-67799600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
34	chr11:67798600-67800400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:67798800-67799400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:67798800-67799400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:67798800-67799400	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:67798800-67799400	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:67798800-67799400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:67798800-67799400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:67798800-67799600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:67798800-67799600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:67798800-67799600	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:67798800-67799600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:67798800-67799600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr11:67798800-67799600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:67798800-67799600	Flanking Active TSS	Fetal Brain Female	brain
48	chr11:67798800-67799600	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr11:67798800-67799600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:67798800-67799600	Enhancers	Spleen	Spleen

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