Variant report

Variant	rs2948343
Chromosome Location	chr7:99297019-99297020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99275381..99276881-chr7:99296561..99298122,2	MCF-7	breast:
2	chr7:99296360..99298503-chr7:99313450..99315683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160870	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10211	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10227637	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10229552	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10242455	0.88[ASN][1000 genomes]
rs10258552	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10282706	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12333599	0.83[ASN][1000 genomes]
rs12334072	0.85[ASN][1000 genomes]
rs12334077	0.87[ASN][1000 genomes]
rs12360	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13362853	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1357319	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1403196	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1419745	0.80[ASN][1000 genomes]
rs15524	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1818797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1851425	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1851427	0.88[ASN][1000 genomes]
rs1859690	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1879859	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2037497	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2037498	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2037499	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2090949	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2140128	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2177180	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2222411	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2257401	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2404769	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2404770	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687072	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687075	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2687076	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2687077	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2687078	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2687079	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2687081	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2687084	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2687085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2687086	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2687087	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687133	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2687134	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2687135	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687136	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687137	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687139	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687140	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687141	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687142	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687143	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687144	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2687145	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2740558	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2740559	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2740560	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2740561	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2740562	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2740563	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2740565	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2741872	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2948344	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735453	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3823812	0.81[ASN][1000 genomes]
rs45442295	0.86[ASN][1000 genomes]
rs45600842	0.86[ASN][1000 genomes]
rs45624139	0.97[ASN][1000 genomes]
rs4646446	0.81[ASN][1000 genomes]
rs4646447	0.80[ASN][1000 genomes]
rs4646449	0.80[ASN][1000 genomes]
rs4646450	0.88[ASN][1000 genomes]
rs4646453	0.80[ASN][1000 genomes]
rs4646457	0.88[ASN][1000 genomes]
rs4646461	0.95[ASN][1000 genomes]
rs4646462	0.84[ASN][1000 genomes]
rs4646465	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55852703	0.97[ASN][1000 genomes]
rs58024720	0.80[ASN][1000 genomes]
rs58649180	0.95[ASN][1000 genomes]
rs59172435	0.84[ASN][1000 genomes]
rs60298785	0.84[ASN][1000 genomes]
rs61593387	0.84[ASN][1000 genomes]
rs6465750	0.89[ASN][1000 genomes]
rs72494453	0.86[ASN][1000 genomes]
rs72494454	0.88[ASN][1000 genomes]
rs72494455	0.95[ASN][1000 genomes]
rs72494456	0.84[ASN][1000 genomes]
rs73410654	0.97[ASN][1000 genomes]
rs776739	0.83[AMR][1000 genomes]
rs776741	0.81[ASN][1000 genomes]
rs776742	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs776744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs776745	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs776746	0.92[ASN][1000 genomes]
rs7780328	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7808022	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs939955	0.84[ASN][1000 genomes]
rs9769359	0.86[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	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv888771	chr7:99294762-99355278	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3378448	chr7:99295540-99331065	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99291400-99297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:99291400-99297600	Weak transcription	Esophagus	oesophagus
3	chr7:99291400-99298800	Weak transcription	Aorta	Aorta
4	chr7:99291400-99306600	Weak transcription	Left Ventricle	heart
5	chr7:99292400-99298600	Enhancers	HepG2	liver
6	chr7:99294200-99301600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:99294400-99301400	Weak transcription	Liver	Liver
8	chr7:99295600-99297600	Enhancers	Fetal Intestine Large	intestine
9	chr7:99295800-99297400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:99295800-99297400	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:99295800-99297400	Enhancers	NHEK	skin
12	chr7:99295800-99297800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:99295800-99298200	Enhancers	K562	blood
14	chr7:99296000-99297400	Weak transcription	Pancreas	Pancrea
15	chr7:99296000-99297800	Enhancers	Fetal Intestine Small	intestine
16	chr7:99296200-99297400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr7:99296200-99297800	Enhancers	Hela-S3	cervix
18	chr7:99296400-99297400	Enhancers	HMEC	breast
19	chr7:99296400-99297800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:99296400-99297800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:99296600-99297200	Active TSS	A549	lung
22	chr7:99296800-99297200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:99296800-99297400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:99297000-99297400	Flanking Active TSS	Stomach Mucosa	stomach
25	chr7:99297000-99297600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:99297000-99297800	Enhancers	Gastric	stomach
27	chr7:99297000-99298000	Enhancers	HUES6 Cell Line	embryonic stem cell

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