Variant report

Variant	rs11967994
Chromosome Location	chr6:4799647-4799648
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	chr6:4775448..4778029-chr6:4799501..4801603,2	K562	blood:
2	chr6:4792198..4795209-chr6:4799398..4802329,4	K562	blood:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction
ENSG00000236336	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1016877	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11968021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1265332	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1265333	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1265334	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1265335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13199417	0.91[CHB][hapmap]
rs13212871	0.91[CHB][hapmap]
rs17138856	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17138859	1.00[CHB][hapmap]
rs17138959	0.91[CHB][hapmap]
rs17138966	0.91[CHB][hapmap]
rs184588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179269	0.80[EUR][1000 genomes]
rs2179270	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2326553	0.91[CHB][hapmap]
rs233476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748078	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61610972	0.84[EUR][1000 genomes]
rs62386574	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386575	0.88[EUR][1000 genomes]
rs62386576	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62386577	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386578	0.87[EUR][1000 genomes]
rs62386582	0.84[EUR][1000 genomes]
rs62386584	0.84[EUR][1000 genomes]
rs62386585	0.84[EUR][1000 genomes]
rs62386587	0.83[EUR][1000 genomes]
rs62386590	0.80[EUR][1000 genomes]
rs6910368	0.86[CEU][hapmap];0.92[GIH][hapmap];0.88[EUR][1000 genomes]
rs6918626	0.86[CEU][hapmap];0.92[GIH][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs73362560	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs808593	0.81[EUR][1000 genomes]
rs808598	0.81[EUR][1000 genomes]
rs808606	0.81[EUR][1000 genomes]
rs808607	0.81[EUR][1000 genomes]
rs808635	0.81[EUR][1000 genomes]
rs811251	0.91[CHB][hapmap]
rs9504254	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9504284	0.83[CHB][hapmap]

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	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4787400-4808800	Weak transcription	Aorta	Aorta
2	chr6:4790000-4799800	Weak transcription	Ovary	ovary
3	chr6:4790200-4803200	Weak transcription	Pancreas	Pancrea
4	chr6:4790600-4801600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:4790800-4801200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:4790800-4801200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:4793800-4799800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:4794800-4801800	Weak transcription	Psoas Muscle	Psoas
9	chr6:4794800-4802600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:4794800-4803200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:4794800-4803200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:4794800-4803600	Weak transcription	Esophagus	oesophagus
13	chr6:4794800-4804400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:4794800-4818800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:4795000-4799800	Weak transcription	Spleen	Spleen
16	chr6:4795000-4800800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:4795000-4802000	Weak transcription	Small Intestine	intestine
18	chr6:4795000-4802600	Weak transcription	Right Ventricle	heart
19	chr6:4795000-4803000	Weak transcription	Left Ventricle	heart
20	chr6:4795000-4803200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:4795000-4803200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:4795000-4803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:4795000-4806200	Weak transcription	Gastric	stomach
24	chr6:4795200-4800200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:4795200-4800800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:4795200-4800800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:4795200-4801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:4795200-4803400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:4795200-4803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:4795200-4806600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:4795600-4799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:4796000-4801000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr6:4796400-4799800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:4796600-4801600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:4797400-4803200	Weak transcription	HSMM	muscle
36	chr6:4798000-4803200	Weak transcription	NHEK	skin
37	chr6:4798200-4803600	Weak transcription	Hela-S3	cervix
38	chr6:4798200-4803600	Weak transcription	NHLF	lung
39	chr6:4798400-4801000	Weak transcription	K562	blood
40	chr6:4798400-4803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:4798600-4800600	Enhancers	GM12878-XiMat	blood
42	chr6:4798600-4800800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:4798600-4801200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:4799600-4799800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr6:4799600-4800000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:4799600-4800000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr6:4799600-4800000	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr6:4799600-4800200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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