Variant report

Variant	rs7130308
Chromosome Location	chr11:57079707-57079708
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	POLR2A	chr11:57075726-57080675	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:57076375-57080927	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:57079480-57080976	K562	blood:	n/a	n/a
4	POLR2A	chr11:57079491-57080095	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:57077940-57080942	K562	blood:	n/a	n/a
6	MAZ	chr11:57077810-57079849	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:57079493-57080951	A549	lung:	n/a	n/a
8	POLR2A	chr11:57079545-57080726	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:57079693-57079827	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:57079637-57079884	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:57075814-57080948	Hela-S3	cervix:	n/a	n/a
12	USF2	chr11:57079346-57080175	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:57079499-57080728	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:57079656-57080709	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:57075206-57079814	U87	brain:	n/a	n/a
16	POLR2A	chr11:57079454-57080878	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:57079508-57080924	K562	blood:	n/a	n/a
18	JUN	chr11:57077965-57079989	K562	blood:	n/a	chr11:57079015-57079025 chr11:57079090-57079099 chr11:57078701-57078713 chr11:57078704-57078715 chr11:57078702-57078713 chr11:57078703-57078711 chr11:57079016-57079024
19	POLR2A	chr11:57079640-57080970	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr11:57079697-57080689	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57079676..57081503-chr11:57234032..57236268,2	K562	blood:
2	chr11:57067370..57069838-chr11:57079646..57081972,2	K562	blood:

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58042413	1.00[AMR][1000 genomes]
rs58587506	1.00[AMR][1000 genomes]
rs59868342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60972068	1.00[AMR][1000 genomes]
rs7102220	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57068400-57081600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:57074400-57081800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:57075000-57080600	Genic enhancers	Spleen	Spleen
4	chr11:57076200-57080600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:57077600-57082200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:57077800-57080000	Genic enhancers	Brain Substantia Nigra	brain
7	chr11:57077800-57080000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
8	chr11:57078000-57079800	Enhancers	Fetal Heart	heart
9	chr11:57078000-57080000	Genic enhancers	Brain Cingulate Gyrus	brain
10	chr11:57078000-57080600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:57078400-57079800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:57079000-57079800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:57079000-57079800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:57079000-57079800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:57079000-57079800	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:57079000-57079800	Weak transcription	Aorta	Aorta
17	chr11:57079000-57079800	Enhancers	Pancreas	Pancrea
18	chr11:57079000-57080000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:57079000-57080000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:57079000-57080000	Enhancers	Lung	lung
21	chr11:57079000-57080000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:57079000-57080600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:57079000-57080800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:57079000-57081400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:57079000-57081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:57079200-57079800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
27	chr11:57079200-57079800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:57079200-57079800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:57079200-57079800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr11:57079200-57080000	Flanking Active TSS	Hela-S3	cervix
31	chr11:57079200-57080000	Transcr. at gene 5' and 3'	NHEK	skin
32	chr11:57079200-57080600	Enhancers	Right Atrium	heart
33	chr11:57079200-57081000	Genic enhancers	Fetal Stomach	stomach
34	chr11:57079200-57091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:57079400-57079800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
36	chr11:57079400-57079800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:57079400-57079800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:57079400-57079800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr11:57079400-57079800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:57079400-57079800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:57079400-57079800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:57079400-57079800	Enhancers	Brain Germinal Matrix	brain
43	chr11:57079400-57079800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:57079400-57079800	Genic enhancers	Fetal Brain Female	brain
45	chr11:57079400-57079800	Enhancers	Fetal Kidney	kidney
46	chr11:57079400-57079800	Enhancers	Small Intestine	intestine
47	chr11:57079400-57079800	Genic enhancers	HUVEC	blood vessel
48	chr11:57079400-57080000	Genic enhancers	H9 Cell Line	embryonic stem cell
49	chr11:57079400-57080000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:57079400-57080000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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