Variant report

Variant	rs7754867
Chromosome Location	chr6:5120585-5120586
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	chr6:5120295..5122743-chr6:5128225..5130886,2	K562	blood:
2	chr6:5119211..5120955-chr6:5124804..5127728,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10484845	0.83[ASW][hapmap];0.82[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs12529198	0.82[GIH][hapmap];1.00[TSI][hapmap]
rs17139385	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17139431	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139533	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17139535	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17139551	0.83[ASW][hapmap];0.82[CEU][hapmap];0.97[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs2746229	0.91[EUR][1000 genomes]
rs56838333	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56917279	0.81[EUR][1000 genomes]
rs57686024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57697533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60464046	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6597112	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs685187	0.86[JPT][hapmap]
rs6922265	0.87[YRI][hapmap]
rs6923992	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6924197	0.83[ASW][hapmap];0.82[CEU][hapmap];0.97[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs73717650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73717652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73717656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73717664	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73717678	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9502268	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9504333	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1017373	chr6:5066785-5128943	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv538112	chr6:5066785-5128943	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1017821	chr6:5114609-5213200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
14	nsv538114	chr6:5114609-5213200	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv981298	chr6:5118857-5126001	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5099000-5130000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:5101800-5132200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:5103200-5132800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:5105200-5131400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:5105800-5125600	Weak transcription	Ovary	ovary
6	chr6:5105800-5128200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:5107800-5132000	Weak transcription	Pancreas	Pancrea
8	chr6:5109200-5121800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:5109200-5130200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:5109400-5121600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:5110200-5121800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:5110400-5121600	Weak transcription	Adipose Nuclei	Adipose
13	chr6:5112200-5128600	Weak transcription	Primary T cells from cord blood	blood
14	chr6:5112600-5122800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:5112600-5123400	Weak transcription	Fetal Lung	lung
16	chr6:5112800-5121600	Weak transcription	Spleen	Spleen
17	chr6:5112800-5122800	Weak transcription	Right Ventricle	heart
18	chr6:5112800-5124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:5112800-5125400	Weak transcription	Right Atrium	heart
20	chr6:5112800-5132600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:5113000-5130400	Weak transcription	Gastric	stomach
22	chr6:5113200-5122200	Weak transcription	Fetal Stomach	stomach
23	chr6:5113200-5122800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:5113200-5122800	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:5113200-5124800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:5113200-5130400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:5113400-5122800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:5113400-5132400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:5113600-5122800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:5113800-5125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:5116000-5121400	Weak transcription	Fetal Heart	heart
32	chr6:5116000-5129000	Weak transcription	Fetal Intestine Small	intestine
33	chr6:5117400-5125200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:5117600-5124600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:5117800-5121600	Enhancers	HepG2	liver
36	chr6:5119400-5123400	Enhancers	Liver	Liver
37	chr6:5119800-5125200	Weak transcription	A549	lung
38	chr6:5120000-5123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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