Variant report

Variant	rs11973971
Chromosome Location	chr7:111926461-111926462
allele	C/T
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	MTA3	chr7:111926189-111926695	GM12878	blood:	n/a	n/a
2	ATF2	chr7:111926256-111926741	GM12878	blood:	n/a	n/a
3	FOXP2	chr7:111926203-111926544	SK-N-MC	brain:	n/a	n/a
4	NFIC	chr7:111926391-111926876	ECC-1	luminal epithelium:	n/a	chr7:111926628-111926645 chr7:111926628-111926644
5	BATF	chr7:111926250-111926547	GM12878	blood:	n/a	n/a
6	CREB1	chr7:111926249-111926754	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:111917890..111921160-chr7:111924295..111928028,4	K562	blood:
2	chr7:111924332..111927478-chr7:111930649..111932749,3	MCF-7	breast:
3	chr7:111920526..111923581-chr7:111925034..111927685,3	MCF-7	breast:

Variant related genes	Relation type
RN7SKP187	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11971175	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11971939	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11973377	1.00[EUR][1000 genomes]
rs11974703	1.00[EUR][1000 genomes]
rs11981674	1.00[EUR][1000 genomes]
rs11983419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873392	1.00[EUR][1000 genomes]
rs17159708	1.00[EUR][1000 genomes]
rs3109110	1.00[EUR][1000 genomes]
rs3109111	1.00[EUR][1000 genomes]
rs6961336	1.00[EUR][1000 genomes]
rs6974737	1.00[EUR][1000 genomes]
rs73424473	1.00[EUR][1000 genomes]
rs73717953	1.00[EUR][1000 genomes]
rs7779086	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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 target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:111907400-111928400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:111913400-111938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:111913600-111929800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
8	chr7:111919200-111928000	Weak transcription	Left Ventricle	heart
9	chr7:111920600-111929600	Weak transcription	NHDF-Ad	bronchial
10	chr7:111920600-111942200	Weak transcription	HepG2	liver
11	chr7:111921200-111929400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:111921200-111937200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:111922000-111949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:111922400-111927000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:111922400-111949800	Weak transcription	Ovary	ovary
17	chr7:111922800-111930200	Weak transcription	A549	lung
18	chr7:111922800-111945000	Weak transcription	Pancreas	Pancrea
19	chr7:111923000-111942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
21	chr7:111923600-111964800	Weak transcription	Gastric	stomach
22	chr7:111923800-111927000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:111924800-111927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:111925000-111927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:111925400-111928000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:111925600-111926800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:111925600-111927000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:111925600-111928000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:111925600-111928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:111925800-111926800	Enhancers	Fetal Brain Female	brain
31	chr7:111925800-111927200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:111925800-111928200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:111926000-111926600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr7:111926000-111926600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:111926000-111926600	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:111926000-111926600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:111926000-111926600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:111926000-111926600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:111926000-111926600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:111926000-111926600	Enhancers	Psoas Muscle	Psoas
41	chr7:111926000-111926600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr7:111926000-111926800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:111926000-111926800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:111926000-111926800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:111926000-111926800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:111926000-111926800	Enhancers	Primary B cells from peripheral blood	blood
47	chr7:111926000-111926800	Enhancers	Primary T cells from cord blood	blood
48	chr7:111926000-111926800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:111926000-111926800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:111926000-111926800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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