Variant report

Variant	rs2959658
Chromosome Location	chr11:64570473-64570474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:64570460-64571372	Hela-S3	cervix:	n/a	n/a
2	HEY1	chr11:64570457-64570637	K562	blood:	n/a	n/a
3	CREB1	chr11:64570326-64570992	K562	blood:	n/a	n/a
4	POLR2A	chr11:64570442-64570667	K562	blood:	n/a	n/a
5	YY1	chr11:64569956-64570678	GM12892	blood:	n/a	chr11:64570298-64570312 chr11:64570297-64570311
6	CREB1	chr11:64570347-64570675	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr11:64570403-64570680	GM12878	blood:	n/a	n/a
8	YY1	chr11:64570418-64570935	K562	blood:	n/a	chr11:64570808-64570817
9	POLR2A	chr11:64570447-64571223	NB4	blood:	n/a	n/a
10	POLR2A	chr11:64570411-64570985	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr11:64570433-64571059	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr11:64570441-64570654	K562	blood:	n/a	n/a
13	HMGN3	chr11:64570334-64570941	K562	blood:	n/a	n/a
14	POLR2A	chr11:64570418-64570693	GM12878	blood:	n/a	n/a
15	CREB1	chr11:64570008-64570994	GM12878	blood:	n/a	n/a
16	MAZ	chr11:64569767-64571820	IMR90	lung:	n/a	n/a
17	POLR2A	chr11:64570430-64570797	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr11:64570434-64570938	Gliobla	brain:	n/a	n/a
19	MYC	chr11:64570470-64571078	K562	blood:	n/a	n/a
20	CREB1	chr11:64570440-64570629	A549	lung:	n/a	n/a
21	POLR2A	chr11:64569906-64571287	GM18951	blood:	n/a	n/a
22	MAZ	chr11:64570024-64571351	GM12878	blood:	n/a	n/a
23	HA-E2F1	chr11:64570448-64570989	Hela-S3	cervix:	n/a	chr11:64570808-64570817
24	POLR2A	chr11:64570446-64570720	A549	lung:	n/a	n/a
25	YY1	chr11:64570436-64570656	K562	blood:	n/a	n/a
26	MAX	chr11:64570121-64571018	K562	blood:	n/a	n/a
27	POLR2A	chr11:64570398-64571314	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr11:64569876-64571285	Raji	blood:	n/a	n/a
29	CREB1	chr11:64570359-64571442	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:64570439-64570704	U87	brain:	n/a	n/a
31	HCFC1	chr11:64570096-64571843	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:64570266-64571490	A549	lung:	n/a	chr11:64570777-64570790
33	CREB1	chr11:64570296-64570675	A549	lung:	n/a	n/a
34	SIN3A	chr11:64570046-64571431	H1-hESC	embryonic stem cell:	n/a	chr11:64570238-64570246
35	POLR2A	chr11:64570453-64570652	HCT-116	colon:	n/a	n/a
36	POLR2A	chr11:64570429-64571609	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:64570374-64570666	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr11:64569929-64571286	GM18505	blood:	n/a	n/a
39	ZBTB7A	chr11:64570307-64570959	K562	blood:	n/a	chr11:64570924-64570933
40	CREB1	chr11:64570270-64571421	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:64570429-64571216	GM19099	blood:	n/a	n/a
42	MAZ	chr11:64570414-64571371	K562	blood:	n/a	n/a
43	ELF1	chr11:64568574-64570677	GM12878	blood:	n/a	chr11:64569343-64569354 chr11:64569377-64569390 chr11:64569341-64569354
44	SIN3AK20	chr11:64570285-64570659	PANC-1	pancreas:	n/a	n/a
45	MAX	chr11:64570472-64570574	NB4	blood:	n/a	n/a
46	POLR2A	chr11:64569880-64571239	GM15510	blood:	n/a	n/a
47	MAX	chr11:64570466-64570632	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:64570431-64571482	ProgFib	skin:	n/a	n/a
49	POLR2A	chr11:64570437-64570674	GM12878	blood:	n/a	n/a
50	MTA3	chr11:64568560-64570486	GM12878	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64567558..64572906-chr11:64572928..64575629,5	MCF-7	breast:
2	chr11:64569285..64571691-chr11:64884123..64886254,2	MCF-7	breast:
3	chr11:64542437..64548103-chr11:64565883..64573066,9	K562	blood:
4	chr11:64564401..64566620-chr11:64569054..64571382,2	MCF-7	breast:
5	chr11:64569062..64575536-chr11:64608720..64614805,15	MCF-7	breast:
6	chr11:64556614..64564048-chr11:64568895..64571879,7	MCF-7	breast:
7	chr11:64568225..64570801-chr11:64644714..64647592,2	MCF-7	breast:
8	chr11:64569782..64572996-chr11:64862581..64865602,3	K562	blood:
9	chr11:64568677..64572675-chr11:64611050..64613930,4	K562	blood:
10	chr11:64552481..64554054-chr11:64570042..64572639,2	MCF-7	breast:
11	chr11:64569309..64573413-chr11:64882963..64885967,3	K562	blood:
12	chr11:64568638..64571349-chr11:64644530..64646635,3	MCF-7	breast:
13	chr11:64543298..64549423-chr11:64566945..64572163,10	K562	blood:
14	chr11:64544683..64548200-chr11:64565443..64572182,16	MCF-7	breast:
15	chr11:64568489..64574764-chr11:64609155..64613913,19	MCF-7	breast:
16	chr11:64568159..64573413-chr11:64882450..64885409,5	K562	blood:
17	chr11:64569893..64571997-chr17:56031897..56034585,2	MCF-7	breast:
18	chr11:64084283..64086871-chr11:64570408..64572291,2	MCF-7	breast:
19	chr11:64568984..64570797-chr11:64610874..64612678,2	K562	blood:
20	chr11:64568687..64571472-chr11:64762371..64764508,2	K562	blood:

No data

Variant related genes	Relation type
MAP4K2	TF binding region
ENSG00000168066	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000180891	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000168062	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17146417	1.00[AMR][1000 genomes]
rs650277	1.00[EUR][1000 genomes]
rs7127422	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription 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	1071 gene(s)	inside rSNPs	diseases
9	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
14	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
15	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
16	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
17	nsv897703	chr11:64538346-64574200	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
18	nsv519117	chr11:64546391-64573589	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
19	nsv519478	chr11:64546391-64584987	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
20	nsv555204	chr11:64561200-64574200	Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv555205	chr11:64561200-64575505	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv555206	chr11:64563757-64574200	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64568200-64571200	Active TSS	Lung	lung
2	chr11:64569000-64570800	Enhancers	Fetal Brain Male	brain
3	chr11:64569200-64570600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:64569400-64571200	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:64569600-64570600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr11:64569600-64570600	Flanking Active TSS	Dnd41	blood
7	chr11:64569600-64572000	Active TSS	Small Intestine	intestine
8	chr11:64569800-64571000	Active TSS	Osteobl	bone
9	chr11:64569800-64571200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:64569800-64571200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:64569800-64571600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:64570000-64570800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:64570000-64570800	Enhancers	Fetal Heart	heart
14	chr11:64570000-64571000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:64570000-64571200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:64570000-64571200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:64570000-64571200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:64570000-64571200	Active TSS	HSMM	muscle
19	chr11:64570000-64571200	Active TSS	NH-A	brain
20	chr11:64570000-64571400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:64570000-64571400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:64570000-64571400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:64570000-64571400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:64570000-64571400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:64570000-64571400	Active TSS	Fetal Kidney	kidney
26	chr11:64570000-64571400	Active TSS	Psoas Muscle	Psoas
27	chr11:64570000-64571600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:64570000-64571600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr11:64570000-64571800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr11:64570200-64570600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:64570200-64570800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr11:64570200-64570800	Enhancers	Stomach Mucosa	stomach
33	chr11:64570200-64571000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:64570200-64571000	Active TSS	Primary hematopoietic stem cells	blood
35	chr11:64570200-64571000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:64570200-64571000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:64570200-64571000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr11:64570200-64571000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:64570200-64571000	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:64570200-64571000	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr11:64570200-64571000	Active TSS	Brain Germinal Matrix	brain
42	chr11:64570200-64571000	Active TSS	Colon Smooth Muscle	Colon
43	chr11:64570200-64571200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:64570200-64571200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:64570200-64571200	Active TSS	Primary T cells from cord blood	blood
46	chr11:64570200-64571200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:64570200-64571200	Active TSS	Brain Angular Gyrus	brain
48	chr11:64570200-64571200	Active TSS	Brain Anterior Caudate	brain
49	chr11:64570200-64571200	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:64570200-64571200	Active TSS	Brain Hippocampus Middle	brain

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