Variant report

Variant	rs7643614
Chromosome Location	chr3:140677161-140677162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140659457..140662013-chr3:140675174..140679419,5	K562	blood:
2	chr3:140677105..140678789-chr3:140688024..140689978,2	K562	blood:
3	chr3:140676819..140681494-chr3:140682104..140687069,10	K562	blood:
4	chr3:140676819..140681121-chr3:140681142..140685749,7	K562	blood:

Variant related genes	Relation type
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1047330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1056126	0.89[ASN][1000 genomes]
rs1056127	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs10935413	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10935414	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1109282	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs1109283	1.00[CHB][hapmap]
rs11707116	0.87[ASN][1000 genomes]
rs11710204	0.98[ASN][1000 genomes]
rs11710926	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs11711131	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs11713505	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs11713816	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11714438	1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs11715248	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs11717620	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs11718040	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs11718539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718563	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs11720342	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs12489397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13063450	0.90[EUR][1000 genomes]
rs13099706	0.90[EUR][1000 genomes]
rs1568337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1593623	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1593624	0.89[ASN][1000 genomes]
rs16850915	0.87[ASN][1000 genomes]
rs16850917	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs16850921	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs16850924	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs16850926	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs16851001	0.86[EUR][1000 genomes]
rs2042759	0.84[EUR][1000 genomes]
rs2081662	0.90[EUR][1000 genomes]
rs2292919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2310859	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2311491	0.90[EUR][1000 genomes]
rs2555702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871615	0.94[CHB][hapmap]
rs35140461	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755764	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs3755765	0.89[ASN][1000 genomes]
rs3773835	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs3773837	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs3773838	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs4068843	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4524250	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4528914	0.88[EUR][1000 genomes]
rs4538351	0.90[EUR][1000 genomes]
rs57151068	0.89[ASN][1000 genomes]
rs57526660	0.89[ASN][1000 genomes]
rs57799705	0.89[ASN][1000 genomes]
rs59128309	0.89[ASN][1000 genomes]
rs59221985	0.89[ASN][1000 genomes]
rs61151473	1.00[ASN][1000 genomes]
rs61629363	0.89[ASN][1000 genomes]
rs61708145	0.89[ASN][1000 genomes]
rs6439962	0.89[ASN][1000 genomes]
rs6439964	0.90[EUR][1000 genomes]
rs6439965	0.81[EUR][1000 genomes]
rs6439969	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67142314	0.86[EUR][1000 genomes]
rs6764740	0.88[EUR][1000 genomes]
rs6767867	0.88[EUR][1000 genomes]
rs6770562	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6772634	0.90[EUR][1000 genomes]
rs6773249	0.90[EUR][1000 genomes]
rs6785007	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6785892	0.90[EUR][1000 genomes]
rs6788711	0.90[EUR][1000 genomes]
rs6789045	0.88[EUR][1000 genomes]
rs6789116	0.88[EUR][1000 genomes]
rs6789265	0.86[EUR][1000 genomes]
rs6797079	0.90[EUR][1000 genomes]
rs6809144	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6810200	0.89[ASN][1000 genomes]
rs713354	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72991046	1.00[ASN][1000 genomes]
rs7621150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626525	0.87[ASN][1000 genomes]
rs7627987	0.86[EUR][1000 genomes]
rs7631373	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7632043	0.87[ASN][1000 genomes]
rs7643287	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7643434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7649116	0.88[ASN][1000 genomes]
rs7650179	0.86[EUR][1000 genomes]
rs7650190	0.86[EUR][1000 genomes]
rs7652381	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs765990	0.90[EUR][1000 genomes]
rs877142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957093	0.90[EUR][1000 genomes]
rs9833041	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9880468	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9880470	0.81[ASN][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	nsv591865	chr3:140396022-140728850	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1005522	chr3:140454632-140685915	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv536732	chr3:140454632-140685915	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1793115	chr3:140663107-140693053	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140661800-140697200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:140662200-140696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:140662400-140679000	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:140662400-140692200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:140662600-140696800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:140662800-140677200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:140662800-140679200	Weak transcription	HSMMtube	muscle
8	chr3:140662800-140682200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:140662800-140695800	Weak transcription	NHLF	lung
10	chr3:140663000-140681600	Weak transcription	NH-A	brain
11	chr3:140663200-140692600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:140663200-140696000	Weak transcription	Fetal Stomach	stomach
13	chr3:140663400-140697400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:140663600-140679200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:140663600-140692600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:140664000-140679000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:140664200-140679000	Weak transcription	Primary B cells from cord blood	blood
18	chr3:140664200-140692400	Weak transcription	Fetal Brain Female	brain
19	chr3:140664200-140703800	Weak transcription	Aorta	Aorta
20	chr3:140664400-140679000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:140664600-140677200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:140665400-140698400	Weak transcription	Brain Germinal Matrix	brain
23	chr3:140665800-140697600	Weak transcription	Gastric	stomach
24	chr3:140667800-140677400	Enhancers	HepG2	liver
25	chr3:140669800-140679200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:140669800-140679400	Weak transcription	Brain Angular Gyrus	brain
27	chr3:140670000-140678600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:140670000-140679000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:140670000-140679000	Weak transcription	Adipose Nuclei	Adipose
30	chr3:140670000-140679200	Weak transcription	Brain Substantia Nigra	brain
31	chr3:140670000-140692600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:140670000-140693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:140670000-140697200	Weak transcription	Esophagus	oesophagus
34	chr3:140670200-140679200	Weak transcription	Dnd41	blood
35	chr3:140670600-140680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:140670600-140698200	Weak transcription	Spleen	Spleen
37	chr3:140670800-140696800	Weak transcription	Lung	lung
38	chr3:140671200-140679600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:140671400-140694000	Weak transcription	Ovary	ovary
40	chr3:140671600-140679000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:140671600-140679200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:140672000-140679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:140672000-140694800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:140672200-140692000	Weak transcription	HUVEC	blood vessel
45	chr3:140672200-140699000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:140672600-140677600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:140672600-140679000	Weak transcription	HSMM	muscle
48	chr3:140672600-140694200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:140672600-140695000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:140672800-140692800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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