Variant report

Variant	rs6945543
Chromosome Location	chr7:117822747-117822748
allele	G/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	POLR2A	chr7:117820845-117829160	K562	blood:	n/a	n/a
2	POLR2A	chr7:117822373-117822832	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:117822677-117822822	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:117822666-117825971	K562	blood:	n/a	n/a
5	POLR2A	chr7:117822340-117822884	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:117822010-117826055	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:117822283-117822853	K562	blood:	n/a	n/a
8	POLR2A	chr7:117822224-117822873	GM12878	blood:	n/a	n/a
9	IRF1	chr7:117822511-117825605	K562	blood:	n/a	chr7:117823522-117823535 chr7:117825228-117825244 chr7:117822936-117822950 chr7:117824214-117824228 chr7:117824218-117824232 chr7:117824218-117824228
10	POLR2A	chr7:117822512-117825871	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:117822669-117824640	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:117388690..117390929-chr7:117821238..117823244,2	MCF-7	breast:
2	chr5:149864249..149866469-chr7:117821128..117824020,2	MCF-7	breast:
3	chr7:117821578..117823325-chr7:117847731..117849389,2	K562	blood:
4	chr7:117819950..117822921-chr7:117839591..117842038,2	MCF-7	breast:
5	chr3:64004028..64006157-chr7:117822623..117824945,2	MCF-7	breast:
6	chr7:117822159..117825807-chr7:117854196..117858736,4	K562	blood:
7	chr7:117821797..117823895-chr7:117873522..117875796,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTTNBP2-3	chr7:117821706-117824013	NONHSAT122959

Variant related genes	Relation type
NAA38	TF binding region
ENSG00000106013	Chromatin interaction
ENSG00000272181	Chromatin interaction
ENSG00000254333	Chromatin interaction
ENSG00000070614	Chromatin interaction
ENSG00000163636	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10265770	0.94[EUR][1000 genomes]
rs12154543	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12155479	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12216555	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1468666	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16870173	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17140937	0.82[EUR][1000 genomes]
rs17140943	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17141022	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17141033	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1990454	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2191921	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2191922	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2286855	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2286856	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2286857	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2286861	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2286862	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2286864	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3757799	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3757801	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3808172	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3808175	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3808178	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3808179	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3898536	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41281099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141029	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4141030	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466461	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466462	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466463	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466464	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466466	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466467	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466468	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466469	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62466472	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62466473	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466474	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466475	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466476	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466478	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466512	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466513	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466516	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466517	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466518	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466519	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466520	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466521	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466522	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466523	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466526	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466527	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466528	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466529	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466531	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466532	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466533	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466554	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62466555	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62466558	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62467931	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62467933	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62468165	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468169	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62468173	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62468208	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62468210	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62468289	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62468290	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62468291	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62468292	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468293	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468294	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468298	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468299	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468300	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468301	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468302	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468303	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468304	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468305	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468306	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468307	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468308	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468309	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468310	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468311	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468312	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62468313	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62468314	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468315	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62469766	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62469768	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62469784	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62469785	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62469787	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62469804	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62469805	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62469807	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62469813	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62469815	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466651	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6942561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943182	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6946385	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6953131	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6955534	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6957412	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6957623	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6962486	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6964881	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6966522	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6966654	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6968077	0.82[EUR][1000 genomes]
rs6971712	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6976656	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6980163	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7778155	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7779197	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7779284	0.82[EUR][1000 genomes]
rs7779452	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7779944	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7780322	0.82[EUR][1000 genomes]
rs7785444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792078	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7792264	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7792296	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7792510	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7792843	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795737	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7796775	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7798307	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7798370	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7798529	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7804943	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7805538	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7805843	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7806876	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7807306	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7809247	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7809742	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7811055	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs979651	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs979653	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117816200-117822800	Weak transcription	Fetal Heart	heart
2	chr7:117816400-117822800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:117818800-117822800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:117819200-117822800	Weak transcription	K562	blood
5	chr7:117820600-117822800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:117820800-117823400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:117822200-117822800	Enhancers	Dnd41	blood
8	chr7:117822400-117823000	Active TSS	Liver	Liver
9	chr7:117822400-117823000	Active TSS	Duodenum Mucosa	Duodenum
10	chr7:117822400-117823000	Enhancers	Pancreas	Pancrea
11	chr7:117822400-117823200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:117822400-117823200	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:117822400-117823200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:117822400-117823200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:117822400-117824800	Active TSS	Gastric	stomach
16	chr7:117822400-117825000	Active TSS	Fetal Intestine Large	intestine
17	chr7:117822400-117825600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:117822600-117822800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:117822600-117822800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:117822600-117822800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:117822600-117822800	Active TSS	Fetal Kidney	kidney
22	chr7:117822600-117822800	Enhancers	Fetal Lung	lung
23	chr7:117822600-117822800	Enhancers	Spleen	Spleen
24	chr7:117822600-117822800	Enhancers	NHEK	skin
25	chr7:117822600-117823000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:117822600-117823000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:117822600-117823000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:117822600-117823000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:117822600-117823000	Active TSS	Fetal Intestine Small	intestine
30	chr7:117822600-117823000	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:117822600-117823000	Enhancers	Left Ventricle	heart
32	chr7:117822600-117823000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr7:117822600-117823200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:117822600-117823200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:117822600-117823200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr7:117822600-117823200	Enhancers	Fetal Thymus	thymus
37	chr7:117822600-117823200	Enhancers	Right Atrium	heart
38	chr7:117822600-117825000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr7:117822600-117825800	Active TSS	Psoas Muscle	Psoas

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