Variant report

Variant	rs382041
Chromosome Location	chr6:74307685-74307686
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74228636..74231731-chr6:74306040..74309055,4	K562	blood:
2	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
3	chr6:74303250..74306152-chr6:74307378..74309370,2	K562	blood:
4	chr6:74230581..74232832-chr6:74306353..74309199,3	MCF-7	breast:
5	chr6:74305928..74307842-chr6:74313274..74316085,2	K562	blood:
6	chr6:74217534..74219125-chr6:74306574..74309139,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223967	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000229862	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs12192512	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12212323	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12212380	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1245333	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303141	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1691341	0.87[JPT][hapmap]
rs1691343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1691344	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1691345	0.81[EUR][1000 genomes]
rs1691347	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1691348	0.80[EUR][1000 genomes]
rs1691350	0.93[ASN][1000 genomes]
rs1703461	0.88[JPT][hapmap]
rs1703463	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1741886	0.88[JPT][hapmap]
rs1741889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1741891	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1741895	0.87[JPT][hapmap]
rs1741898	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1848523	0.88[JPT][hapmap]
rs1874231	0.88[JPT][hapmap]
rs2351120	0.83[CEU][hapmap]
rs364734	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3734518	0.84[CEU][hapmap]
rs3757108	0.87[JPT][hapmap]
rs382038	0.85[EUR][1000 genomes]
rs395996	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4032317	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4079357	0.87[JPT][hapmap]
rs428944	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs445098	0.82[AFR][1000 genomes]
rs453979	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4708072	0.81[JPT][hapmap]
rs4708073	0.88[JPT][hapmap]
rs472294	0.88[JPT][hapmap]
rs473078	0.87[JPT][hapmap]
rs473473	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs474661	0.87[JPT][hapmap]
rs475459	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs475461	0.83[EUR][1000 genomes]
rs476838	0.87[JPT][hapmap]
rs476996	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs478301	0.93[ASN][1000 genomes]
rs478836	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs480714	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs480871	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs484067	0.93[ASN][1000 genomes]
rs485802	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs487673	0.88[ASN][1000 genomes]
rs494841	0.88[JPT][hapmap]
rs506157	0.88[JPT][hapmap]
rs506262	0.88[JPT][hapmap]
rs527606	0.88[JPT][hapmap]
rs543642	0.87[JPT][hapmap]
rs546134	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs549852	0.82[EUR][1000 genomes]
rs549892	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs555840	0.87[JPT][hapmap]
rs560386	0.93[ASN][1000 genomes]
rs560797	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs565535	0.86[EUR][1000 genomes]
rs565836	0.85[ASN][1000 genomes]
rs570050	0.87[JPT][hapmap]
rs573753	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs580531	0.87[JPT][hapmap]
rs583149	0.87[JPT][hapmap]
rs584078	0.88[JPT][hapmap]
rs584571	0.88[JPT][hapmap]
rs605567	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs609790	0.88[JPT][hapmap]
rs609829	0.88[JPT][hapmap]
rs610260	0.87[JPT][hapmap]
rs611580	0.88[JPT][hapmap]
rs612800	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs615052	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs615956	0.82[EUR][1000 genomes]
rs625512	0.88[JPT][hapmap]
rs626323	0.84[EUR][1000 genomes]
rs628038	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs629381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs636166	0.87[JPT][hapmap]
rs636605	0.88[JPT][hapmap]
rs642651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs643653	0.93[ASN][1000 genomes]
rs657212	0.87[JPT][hapmap]
rs670248	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs673511	0.84[JPT][hapmap]
rs676952	0.84[JPT][hapmap]
rs678054	0.88[JPT][hapmap]
rs678409	0.93[EUR][1000 genomes]
rs685491	0.88[JPT][hapmap]
rs686317	0.88[JPT][hapmap]
rs687210	0.87[JPT][hapmap]
rs7764560	0.93[JPT][hapmap]
rs7764983	0.88[JPT][hapmap]
rs9293932	0.86[JPT][hapmap]
rs9293933	0.88[JPT][hapmap]
rs9442933	0.91[ASN][1000 genomes]
rs9442934	0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs9446955	0.87[JPT][hapmap]
rs9446957	0.88[JPT][hapmap]
rs9446964	0.87[JPT][hapmap]
rs970091	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv527357	chr6:74253266-74325403	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv886160	chr6:74305276-74341589	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74289600-74309600	Weak transcription	Lung	lung
2	chr6:74289600-74323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:74290600-74318400	Weak transcription	Small Intestine	intestine
4	chr6:74290600-74338800	Weak transcription	Ovary	ovary
5	chr6:74291000-74315800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:74291000-74323600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:74295200-74321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:74296000-74317200	Weak transcription	Fetal Brain Female	brain
9	chr6:74296200-74317800	Weak transcription	Colonic Mucosa	Colon
10	chr6:74296200-74317800	Weak transcription	Gastric	stomach
11	chr6:74296200-74322200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:74296200-74322400	Weak transcription	Brain Germinal Matrix	brain
13	chr6:74296200-74332000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:74296400-74309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:74296400-74309000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:74296400-74316000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:74296400-74316400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:74296400-74318400	Weak transcription	Aorta	Aorta
19	chr6:74296400-74318400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:74296400-74325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
24	chr6:74296600-74308000	Weak transcription	NHEK	skin
25	chr6:74296600-74309000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:74296600-74317600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:74296600-74317800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:74296600-74319200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:74296600-74324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:74296600-74324200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:74296600-74324400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:74296600-74344000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:74296800-74309200	Weak transcription	NH-A	brain
34	chr6:74296800-74316200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:74296800-74334000	Weak transcription	Fetal Lung	lung
36	chr6:74297000-74313200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:74297000-74313400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:74297000-74313800	Weak transcription	Fetal Thymus	thymus
39	chr6:74297000-74316000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:74297000-74318000	Weak transcription	HSMM	muscle
41	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
42	chr6:74297400-74318000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:74297600-74308800	Weak transcription	HSMMtube	muscle
44	chr6:74298400-74316400	Weak transcription	Dnd41	blood
45	chr6:74298400-74321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:74300600-74313800	Weak transcription	Placenta	Placenta
47	chr6:74300800-74323600	Weak transcription	Esophagus	oesophagus
48	chr6:74302600-74310200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:74302600-74310600	Strong transcription	Fetal Intestine Small	intestine
50	chr6:74302800-74308200	Strong transcription	Liver	Liver

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