Variant report

Variant	rs3093003
Chromosome Location	chr6:167553474-167553475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167186547..167188661-chr6:167553295..167555799,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11575083	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11575084	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11575085	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11575086	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16899900	0.82[EUR][1000 genomes]
rs17860865	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860868	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297470	0.92[GIH][hapmap];0.85[TSI][hapmap]
rs2345968	0.92[GIH][hapmap];0.85[TSI][hapmap]
rs3092997	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092998	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093005	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3093011	1.00[CEU][hapmap]
rs34580891	1.00[ASN][1000 genomes]
rs35609966	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56019840	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61592390	0.91[EUR][1000 genomes]
rs6902381	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6903530	0.87[EUR][1000 genomes]
rs6903881	1.00[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs6905921	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6909397	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6911291	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914502	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6916776	0.84[EUR][1000 genomes]
rs6929910	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6931699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6931712	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs73025424	0.91[EUR][1000 genomes]
rs73025426	0.91[EUR][1000 genomes]
rs73025427	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73025434	0.91[EUR][1000 genomes]
rs7750651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9459889	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9459893	0.92[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
3	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
6	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1018193	chr6:167491589-167797294	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv538544	chr6:167491589-167797294	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv469673	chr6:167500376-167658532	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv482439	chr6:167500376-167658532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2758094	chr6:167501204-167845935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759492	chr6:167501204-168176733	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv482873	chr6:167521620-167679133	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1024657	chr6:167526198-167555488	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv7999	chr6:167552715-167558308	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167534000-167573400	Weak transcription	Right Atrium	heart
2	chr6:167535600-167554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:167542000-167554000	Weak transcription	Fetal Intestine Large	intestine
4	chr6:167543400-167565000	Weak transcription	Spleen	Spleen
5	chr6:167544200-167555000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:167544400-167554400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:167545200-167553800	Weak transcription	GM12878-XiMat	blood
8	chr6:167545200-167554200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:167545400-167554600	Strong transcription	Primary B cells from cord blood	blood
10	chr6:167546000-167554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:167549000-167554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:167549800-167554200	Weak transcription	Fetal Stomach	stomach
13	chr6:167550600-167560400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:167551000-167554000	Weak transcription	Fetal Intestine Small	intestine
15	chr6:167551000-167555600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:167551200-167554000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:167551200-167555400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:167551200-167555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:167551200-167559600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:167551600-167555000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:167551600-167555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:167551800-167554400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:167552400-167554200	Enhancers	HepG2	liver
24	chr6:167552600-167555400	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr6:167552600-167556200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:167552800-167560800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:167553000-167554000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:167553000-167554000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:167553000-167554800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:167553000-167556000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:167553000-167558800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:167553400-167554200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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