Variant report

Variant	rs11967957
Chromosome Location	chr6:76310519-76310520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:76310463-76313759	SK-N-SH	brain:	n/a	n/a
2	REST	chr6:76310375-76313045	H1-neurons	neurons:	n/a	chr6:76311494-76311512 chr6:76311501-76311511
3	TBP	chr6:76310478-76311937	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:76310389-76312884	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149223806..149225375-chr6:76310132..76311971,2	MCF-7	breast:
2	chr6:75953153..75955682-chr6:76309116..76311798,2	K562	blood:
3	chr6:75993142..75995708-chr6:76310246..76313188,4	K562	blood:
4	chr6:76300158..76302964-chr6:76309745..76311544,2	K562	blood:
5	chr6:76310342..76312305-chr6:76373129..76377244,3	K562	blood:

Variant related genes	Relation type
SENP6	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000112701	Chromatin interaction
ENSG00000112697	Chromatin interaction
ENSG00000225793	Chromatin interaction
ENSG00000252137	Chromatin interaction
ENSG00000112695	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11963245	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11964157	1.00[EUR][1000 genomes]
rs11965869	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1336045	1.00[EUR][1000 genomes]
rs1414593	1.00[EUR][1000 genomes]
rs1498383	1.00[EUR][1000 genomes]
rs1591509	1.00[EUR][1000 genomes]
rs16886792	1.00[EUR][1000 genomes]
rs16886846	1.00[EUR][1000 genomes]
rs16886870	1.00[EUR][1000 genomes]
rs34174184	1.00[EUR][1000 genomes]
rs58950544	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv1023331	chr6:76238459-76482117	Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv538315	chr6:76238459-76482117	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1031745	chr6:76257913-76493355	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv538316	chr6:76257913-76493355	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv533100	chr6:76257914-76493354	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv1023749	chr6:76287578-76482117	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv538317	chr6:76287578-76482117	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised 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	38 gene(s)	inside rSNPs	diseases
17	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	esv3372148	chr6:76310257-76313105	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76309000-76310600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr6:76309000-76310600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:76309000-76310600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr6:76309000-76310600	Weak transcription	Brain Angular Gyrus	brain
5	chr6:76309000-76310600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:76309000-76310800	Enhancers	Colon Smooth Muscle	Colon
7	chr6:76309000-76310800	Weak transcription	Right Atrium	heart
8	chr6:76309000-76311000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:76309000-76311000	Weak transcription	Aorta	Aorta
10	chr6:76309000-76311200	Weak transcription	Colonic Mucosa	Colon
11	chr6:76309000-76311200	Weak transcription	Ovary	ovary
12	chr6:76309000-76311400	Weak transcription	Spleen	Spleen
13	chr6:76309600-76310600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:76309600-76310600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:76309800-76310600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:76309800-76310600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:76309800-76310600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:76309800-76310600	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:76309800-76310600	Enhancers	Dnd41	blood
20	chr6:76309800-76310800	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:76309800-76311000	Enhancers	Fetal Intestine Small	intestine
22	chr6:76309800-76311000	Enhancers	Fetal Stomach	stomach
23	chr6:76310000-76310600	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:76310000-76310800	Enhancers	Fetal Intestine Large	intestine
25	chr6:76310200-76310600	Enhancers	Primary B cells from cord blood	blood
26	chr6:76310200-76310600	Enhancers	Psoas Muscle	Psoas
27	chr6:76310200-76310800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:76310400-76310600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:76310400-76310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:76310400-76310600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:76310400-76310600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:76310400-76310600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:76310400-76310600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:76310400-76310600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:76310400-76310600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:76310400-76310600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:76310400-76310600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:76310400-76310600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr6:76310400-76310600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:76310400-76310600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:76310400-76310600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:76310400-76310600	Enhancers	Adipose Nuclei	Adipose
43	chr6:76310400-76310600	Enhancers	Brain Hippocampus Middle	brain
44	chr6:76310400-76310600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:76310400-76310600	Enhancers	Fetal Brain Female	brain
46	chr6:76310400-76310600	Enhancers	Fetal Heart	heart
47	chr6:76310400-76310600	Enhancers	Fetal Kidney	kidney
48	chr6:76310400-76310600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr6:76310400-76310600	Enhancers	Small Intestine	intestine
50	chr6:76310400-76310600	Enhancers	A549	lung

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