Variant report

Variant	rs6441785
Chromosome Location	chr3:43642126-43642127
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43629135..43631548-chr3:43641030..43643119,2	K562	blood:
2	chr3:43640948..43642570-chr3:43662053..43664008,2	K562	blood:
3	chr3:43640739..43642524-chr3:43732407..43733933,2	K562	blood:

Variant related genes	Relation type
ENSG00000011198	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1021049	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1026887	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1038202	0.85[ASN][1000 genomes]
rs10440111	0.89[ASN][1000 genomes]
rs11130006	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11706123	0.80[ASN][1000 genomes]
rs11706130	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11708097	0.83[CEU][hapmap];0.84[ASN][1000 genomes]
rs11709165	0.82[ASN][1000 genomes]
rs11710079	0.83[CEU][hapmap];0.84[ASN][1000 genomes]
rs11710107	0.83[CEU][hapmap];0.84[ASN][1000 genomes]
rs11710955	0.83[CEU][hapmap];0.84[ASN][1000 genomes]
rs11712894	0.82[ASN][1000 genomes]
rs11713382	0.84[ASN][1000 genomes]
rs11714015	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11716569	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11717380	0.83[CEU][hapmap]
rs11717449	0.84[ASN][1000 genomes]
rs11718482	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12152260	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12374079	0.93[ASN][1000 genomes]
rs13061553	0.82[ASN][1000 genomes]
rs13072613	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13075520	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13084604	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13086999	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13092838	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13098202	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1384434	0.82[CEU][hapmap];0.80[ASN][1000 genomes]
rs1471643	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1471644	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1482648	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1482649	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1482650	0.83[CEU][hapmap];0.84[ASN][1000 genomes]
rs1482651	0.83[CEU][hapmap];0.91[ASN][1000 genomes]
rs1482652	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1482653	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17030517	0.91[ASN][1000 genomes]
rs17407745	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17407870	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17407912	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17408925	0.89[ASN][1000 genomes]
rs2010778	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2054552	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2054553	0.93[ASN][1000 genomes]
rs2054554	0.93[ASN][1000 genomes]
rs2086653	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2127725	0.91[ASN][1000 genomes]
rs2170219	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2199892	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2219902	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2372433	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2372436	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2372487	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2372488	0.80[AMR][1000 genomes]
rs2888312	0.84[ASN][1000 genomes]
rs34279519	0.85[ASN][1000 genomes]
rs34548104	0.84[ASN][1000 genomes]
rs34898315	0.84[ASN][1000 genomes]
rs34919938	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35015014	0.84[ASN][1000 genomes]
rs35133889	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35418463	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3755602	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3772165	0.93[ASN][1000 genomes]
rs3821381	0.93[ASN][1000 genomes]
rs3902207	0.89[ASN][1000 genomes]
rs4234430	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4516582	0.84[ASN][1000 genomes]
rs4564953	0.83[CEU][hapmap];0.84[ASN][1000 genomes]
rs4585169	0.89[EUR][1000 genomes]
rs4682690	0.93[ASN][1000 genomes]
rs4682691	0.84[CEU][hapmap];0.93[ASN][1000 genomes]
rs4682892	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4682897	0.91[ASN][1000 genomes]
rs4682898	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6441776	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6441779	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6441780	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6441781	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6441786	0.91[ASN][1000 genomes]
rs6441787	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66842319	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67032102	0.84[ASN][1000 genomes]
rs6763321	0.89[ASN][1000 genomes]
rs6767983	0.84[ASN][1000 genomes]
rs6768557	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6775337	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6779864	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6781290	0.82[ASN][1000 genomes]
rs6782442	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6797855	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6806339	0.82[EUR][1000 genomes]
rs6809134	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7428158	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs7616708	0.93[ASN][1000 genomes]
rs7621271	0.93[ASN][1000 genomes]
rs7648082	0.91[ASN][1000 genomes]
rs7653738	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9311341	0.93[ASN][1000 genomes]
rs9682975	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9829081	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9839558	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9851894	0.94[ASN][1000 genomes]
rs9863479	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9878330	0.93[ASN][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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
2	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
3	chr3:43587000-43647200	Weak transcription	Fetal Kidney	kidney
4	chr3:43589000-43648400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:43614600-43653800	Weak transcription	HepG2	liver
6	chr3:43618600-43644000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:43618600-43649600	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:43618600-43654400	Weak transcription	Colonic Mucosa	Colon
9	chr3:43618600-43662400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:43622200-43648400	Weak transcription	HMEC	breast
11	chr3:43623600-43644400	Weak transcription	NHEK	skin
12	chr3:43624000-43657600	Weak transcription	Psoas Muscle	Psoas
13	chr3:43625800-43662600	Weak transcription	Primary T cells from cord blood	blood
14	chr3:43626000-43643200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:43626200-43652400	Weak transcription	Osteobl	bone
16	chr3:43627400-43646200	Weak transcription	HUVEC	blood vessel
17	chr3:43630200-43642200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:43631200-43646000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:43633200-43645200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:43633200-43647600	Weak transcription	HSMMtube	muscle
21	chr3:43633200-43654800	Weak transcription	Small Intestine	intestine
22	chr3:43633200-43662400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:43633400-43645200	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:43633400-43645800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:43633400-43646400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:43633400-43648800	Weak transcription	Placenta	Placenta
27	chr3:43633400-43653800	Weak transcription	Gastric	stomach
28	chr3:43633400-43657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:43633400-43662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:43633400-43662600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:43633400-43662600	Weak transcription	Pancreas	Pancrea
32	chr3:43634000-43647000	Weak transcription	Esophagus	oesophagus
33	chr3:43634000-43648800	Weak transcription	Lung	lung
34	chr3:43634000-43652600	Weak transcription	Fetal Intestine Large	intestine
35	chr3:43634000-43652800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:43634000-43658000	Weak transcription	Left Ventricle	heart
37	chr3:43634000-43662400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:43634000-43662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:43634000-43662600	Weak transcription	Ovary	ovary
40	chr3:43634200-43658000	Weak transcription	Fetal Stomach	stomach
41	chr3:43634400-43644200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:43634400-43647400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:43634400-43662000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:43634600-43644600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:43634600-43645800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:43634600-43662400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:43634800-43650800	Weak transcription	Fetal Lung	lung
48	chr3:43635200-43659800	Weak transcription	Aorta	Aorta
49	chr3:43635200-43662600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:43637000-43659400	Weak transcription	Brain Substantia Nigra	brain

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