Variant report

Variant	rs73697574
Chromosome Location	chr7:50568991-50568992
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	chr7:50564851..50566745-chr7:50568557..50570240,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10499693	1.00[EUR][1000 genomes]
rs11575293	1.00[EUR][1000 genomes]
rs11575302	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575340	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575343	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575360	1.00[EUR][1000 genomes]
rs11575381	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575385	1.00[EUR][1000 genomes]
rs11575407	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575447	1.00[EUR][1000 genomes]
rs11575493	1.00[EUR][1000 genomes]
rs11575494	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575501	1.00[EUR][1000 genomes]
rs11575502	1.00[EUR][1000 genomes]
rs11575503	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575504	1.00[EUR][1000 genomes]
rs11575505	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575507	1.00[EUR][1000 genomes]
rs11575508	1.00[EUR][1000 genomes]
rs11575510	1.00[EUR][1000 genomes]
rs11575511	1.00[EUR][1000 genomes]
rs11575512	1.00[EUR][1000 genomes]
rs11575514	1.00[EUR][1000 genomes]
rs11575518	1.00[EUR][1000 genomes]
rs11575519	1.00[EUR][1000 genomes]
rs11575522	1.00[EUR][1000 genomes]
rs11575523	1.00[EUR][1000 genomes]
rs11575527	1.00[EUR][1000 genomes]
rs11575537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575540	1.00[EUR][1000 genomes]
rs11575542	1.00[EUR][1000 genomes]
rs11575543	1.00[EUR][1000 genomes]
rs11575546	1.00[EUR][1000 genomes]
rs11575547	1.00[EUR][1000 genomes]
rs11575549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11978797	0.92[EUR][1000 genomes]
rs11981575	1.00[EUR][1000 genomes]
rs11982708	1.00[EUR][1000 genomes]
rs11982772	1.00[EUR][1000 genomes]
rs11982776	0.92[EUR][1000 genomes]
rs11983581	1.00[EUR][1000 genomes]
rs11983757	1.00[EUR][1000 genomes]
rs12112308	1.00[EUR][1000 genomes]
rs12113897	0.84[EUR][1000 genomes]
rs2329370	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3173669	0.92[EUR][1000 genomes]
rs55869201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55992615	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030652	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56951986	0.85[AMR][1000 genomes]
rs57167849	0.92[EUR][1000 genomes]
rs57835901	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57927451	0.85[AMR][1000 genomes]
rs59150746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59828622	0.92[EUR][1000 genomes]
rs6956737	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975312	1.00[EUR][1000 genomes]
rs6978556	0.92[EUR][1000 genomes]
rs73695512	1.00[EUR][1000 genomes]
rs73695638	0.84[EUR][1000 genomes]
rs73695639	0.92[EUR][1000 genomes]
rs73695640	0.92[EUR][1000 genomes]
rs73695641	0.92[EUR][1000 genomes]
rs73695643	0.92[EUR][1000 genomes]
rs73695661	0.92[EUR][1000 genomes]
rs73695664	0.92[EUR][1000 genomes]
rs73695666	0.92[EUR][1000 genomes]
rs73695667	0.92[EUR][1000 genomes]
rs73695668	0.92[EUR][1000 genomes]
rs73695669	0.92[EUR][1000 genomes]
rs73695670	0.92[EUR][1000 genomes]
rs73695671	0.92[EUR][1000 genomes]
rs73695672	0.92[EUR][1000 genomes]
rs73695673	0.92[EUR][1000 genomes]
rs73695681	1.00[EUR][1000 genomes]
rs73695682	1.00[EUR][1000 genomes]
rs73695683	1.00[EUR][1000 genomes]
rs73695684	1.00[EUR][1000 genomes]
rs73695700	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695701	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695702	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73697528	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs930707	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9942578	0.92[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50565200-50569800	Weak transcription	Right Atrium	heart
4	chr7:50565200-50570000	Weak transcription	Left Ventricle	heart
5	chr7:50565200-50570200	Weak transcription	Lung	lung
6	chr7:50565200-50572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:50565400-50569800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:50565400-50570000	Weak transcription	Pancreas	Pancrea
10	chr7:50565400-50570000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:50565400-50570000	Enhancers	Hela-S3	cervix
12	chr7:50565600-50569800	Weak transcription	Fetal Lung	lung
13	chr7:50565800-50569000	Strong transcription	HepG2	liver
14	chr7:50565800-50570000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:50566000-50569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:50566200-50569400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:50566200-50569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:50566200-50569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:50566200-50569600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:50566200-50569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:50566200-50569800	Weak transcription	Ovary	ovary
22	chr7:50566200-50576000	Weak transcription	Colonic Mucosa	Colon
23	chr7:50566200-50581200	Strong transcription	Fetal Intestine Small	intestine
24	chr7:50566400-50572600	Strong transcription	Fetal Intestine Large	intestine
25	chr7:50566600-50569800	Weak transcription	HUVEC	blood vessel
26	chr7:50566800-50571400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr7:50567600-50569200	Enhancers	Fetal Stomach	stomach
28	chr7:50567800-50569400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:50567800-50569800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:50568200-50574400	Enhancers	Fetal Muscle Leg	muscle
31	chr7:50568400-50569000	Enhancers	Spleen	Spleen
32	chr7:50568400-50570200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:50568600-50569000	Enhancers	Psoas Muscle	Psoas
34	chr7:50568600-50569600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:50568800-50569000	Flanking Active TSS	Gastric	stomach
36	chr7:50568800-50569800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:50568800-50571400	Enhancers	HMEC	breast

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