Variant report

Variant	rs11971640
Chromosome Location	chr7:98988053-98988054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98986803-98988142	HL-60	blood:	n/a	n/a
2	POLR2A	chr7:98986864-98999101	K562	blood:	n/a	n/a
3	POLR2A	chr7:98987061-98988066	K562	blood:	n/a	n/a
4	POLR2A	chr7:98987824-98988098	K562	blood:	n/a	n/a
5	POLR2A	chr7:98986762-98988249	K562	blood:	n/a	n/a
6	POLR2A	chr7:98987820-98994059	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:98986963-98988248	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:98987038-98988130	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:98986840-98989273	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:98986956-98988180	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98970980..98974747-chr7:98986775..98992580,7	MCF-7	breast:
2	chr7:98986172..98988816-chr7:99004808..99007138,3	MCF-7	breast:
3	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
4	chr7:98987157..98988975-chr7:99062223..99064769,2	MCF-7	breast:
5	chr7:98922130..98924896-chr7:98987117..98989793,2	K562	blood:

No data

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000106244	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000241685	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10085772	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10215765	1.00[ASN][1000 genomes]
rs10215854	1.00[ASN][1000 genomes]
rs10226310	1.00[ASN][1000 genomes]
rs10229886	1.00[ASN][1000 genomes]
rs10230784	1.00[ASN][1000 genomes]
rs10235235	1.00[ASN][1000 genomes]
rs10236240	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261635	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10264505	1.00[ASN][1000 genomes]
rs10268984	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273424	1.00[ASN][1000 genomes]
rs10275381	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277447	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808112	1.00[ASN][1000 genomes]
rs10953288	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953289	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11555142	1.00[ASN][1000 genomes]
rs11760993	0.84[EUR][1000 genomes]
rs11761528	1.00[ASN][1000 genomes]
rs11766423	1.00[ASN][1000 genomes]
rs11973173	1.00[ASN][1000 genomes]
rs11973801	1.00[ASN][1000 genomes]
rs11974593	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978345	1.00[ASN][1000 genomes]
rs11978582	1.00[ASN][1000 genomes]
rs11980143	1.00[ASN][1000 genomes]
rs11980995	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980999	1.00[ASN][1000 genomes]
rs11983474	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531852	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533251	1.00[ASN][1000 genomes]
rs12535424	1.00[ASN][1000 genomes]
rs12536002	1.00[ASN][1000 genomes]
rs12539480	1.00[ASN][1000 genomes]
rs13223272	1.00[ASN][1000 genomes]
rs13226604	0.83[EUR][1000 genomes]
rs13227522	1.00[ASN][1000 genomes]
rs13243267	1.00[ASN][1000 genomes]
rs17161687	1.00[ASN][1000 genomes]
rs17161761	1.00[ASN][1000 genomes]
rs2003498	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419687	1.00[ASN][1000 genomes]
rs28602855	1.00[ASN][1000 genomes]
rs28627543	1.00[ASN][1000 genomes]
rs34111611	1.00[ASN][1000 genomes]
rs34257469	1.00[ASN][1000 genomes]
rs35183025	1.00[ASN][1000 genomes]
rs35296070	1.00[ASN][1000 genomes]
rs35656351	1.00[ASN][1000 genomes]
rs36104094	1.00[ASN][1000 genomes]
rs45618033	1.00[ASN][1000 genomes]
rs4765	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55761861	1.00[ASN][1000 genomes]
rs57786744	1.00[ASN][1000 genomes]
rs57980352	1.00[ASN][1000 genomes]
rs58964157	1.00[ASN][1000 genomes]
rs60127638	1.00[ASN][1000 genomes]
rs60577432	1.00[ASN][1000 genomes]
rs61740607	1.00[ASN][1000 genomes]
rs66478766	1.00[ASN][1000 genomes]
rs66509940	1.00[ASN][1000 genomes]
rs66568021	1.00[ASN][1000 genomes]
rs66674233	1.00[ASN][1000 genomes]
rs67279166	1.00[ASN][1000 genomes]
rs67309224	1.00[ASN][1000 genomes]
rs67546174	1.00[ASN][1000 genomes]
rs67860332	1.00[ASN][1000 genomes]
rs67909852	1.00[ASN][1000 genomes]
rs67934834	1.00[ASN][1000 genomes]
rs6947826	1.00[ASN][1000 genomes]
rs6947941	1.00[ASN][1000 genomes]
rs6947974	1.00[ASN][1000 genomes]
rs6955891	1.00[ASN][1000 genomes]
rs6960810	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704798	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157587	1.00[ASN][1000 genomes]
rs73157588	1.00[ASN][1000 genomes]
rs73157589	1.00[ASN][1000 genomes]
rs73157590	1.00[ASN][1000 genomes]
rs73157596	1.00[ASN][1000 genomes]
rs73157600	1.00[ASN][1000 genomes]
rs73157601	1.00[ASN][1000 genomes]
rs73157602	1.00[ASN][1000 genomes]
rs73159506	1.00[ASN][1000 genomes]
rs73159509	1.00[ASN][1000 genomes]
rs73159522	1.00[ASN][1000 genomes]
rs73163167	1.00[ASN][1000 genomes]
rs73163169	1.00[ASN][1000 genomes]
rs740160	1.00[ASN][1000 genomes]
rs7778859	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868391	1.00[ASN][1000 genomes]
rs9632722	1.00[ASN][1000 genomes]
rs9656060	1.00[ASN][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
2	chr7:98973400-98989800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:98978200-98989800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:98978800-98989000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:98979000-98989600	Weak transcription	Stomach Mucosa	stomach
6	chr7:98979200-98989600	Weak transcription	Brain Substantia Nigra	brain
7	chr7:98979400-99001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:98979600-98989800	Weak transcription	Fetal Heart	heart
9	chr7:98979600-98990200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:98979600-98990200	Weak transcription	Right Atrium	heart
11	chr7:98980400-99003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:98980600-98989600	Strong transcription	NHEK	skin
13	chr7:98980800-98990000	Strong transcription	NHLF	lung
14	chr7:98980800-99000600	Strong transcription	Dnd41	blood
15	chr7:98981000-98988400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:98981000-98993000	Strong transcription	A549	lung
17	chr7:98981200-98989800	Strong transcription	Fetal Intestine Small	intestine
18	chr7:98981200-98989800	Strong transcription	Thymus	Thymus
19	chr7:98981200-98990000	Strong transcription	K562	blood
20	chr7:98981400-98989800	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr7:98981400-98989800	Strong transcription	Fetal Stomach	stomach
22	chr7:98981600-98989800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:98981800-98988800	Strong transcription	GM12878-XiMat	blood
24	chr7:98981800-98989800	Weak transcription	Fetal Brain Male	brain
25	chr7:98982400-98989600	Strong transcription	Spleen	Spleen
26	chr7:98982400-98989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:98982800-98989000	Strong transcription	Fetal Thymus	thymus
28	chr7:98983000-98988600	Strong transcription	Gastric	stomach
29	chr7:98983000-98989400	Strong transcription	Fetal Muscle Leg	muscle
30	chr7:98983000-98989600	Strong transcription	HMEC	breast
31	chr7:98983000-98989600	Strong transcription	HUVEC	blood vessel
32	chr7:98983000-98989800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:98983200-98989000	Strong transcription	Pancreas	Pancrea
34	chr7:98983200-98989000	Strong transcription	Right Ventricle	heart
35	chr7:98983200-98989200	Strong transcription	Colonic Mucosa	Colon
36	chr7:98983200-98989400	Strong transcription	Fetal Intestine Large	intestine
37	chr7:98983200-98989800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr7:98983200-98989800	Strong transcription	Lung	lung
39	chr7:98983200-98990000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:98983200-98990000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:98983200-98990000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:98983400-98988800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:98983400-98989200	Strong transcription	Esophagus	oesophagus
44	chr7:98983400-98989600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:98983400-98989600	Strong transcription	Placenta	Placenta
46	chr7:98983400-98989600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr7:98983400-98989800	Strong transcription	Primary B cells from cord blood	blood
48	chr7:98983400-98989800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:98983400-98989800	Strong transcription	Adipose Nuclei	Adipose
50	chr7:98983600-98988600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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