Variant report

Variant	rs2064302
Chromosome Location	chr6:556106-556107
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	chr6:547365..551398-chr6:554703..556722,3	K562	blood:
2	chr6:549245..551585-chr6:554047..557625,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2245544	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2277095	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3765438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3799303	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59891300	0.96[ASN][1000 genomes]
rs73376436	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs761099	0.96[ASN][1000 genomes]
rs9378926	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428134	chr6:60001-653718	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2758034	chr6:60001-775274	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2759401	chr6:60001-775274	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv531999	chr6:163083-588213	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1067791	chr6:163083-919234	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv497978	chr6:163083-919234	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1032462	chr6:170425-766201	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
8	nsv538029	chr6:170425-766201	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1034089	chr6:183203-714494	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv538053	chr6:230804-757589	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv533283	chr6:265806-588274	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv432841	chr6:367109-722716	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv830569	chr6:402743-573991	Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer 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	3 gene(s)	inside rSNPs	diseases
14	nsv600781	chr6:403799-833579	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	nsv948643	chr6:455419-1113509	Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
16	nsv948744	chr6:472807-1178561	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv1023195	chr6:474826-737503	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv538070	chr6:474826-737503	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1015678	chr6:474826-866394	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv538071	chr6:474826-866394	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv1029037	chr6:491587-691133	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv1020274	chr6:493549-700137	Strong transcription Flanking Active TSS Weak transcription Enhancers 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	9 gene(s)	inside rSNPs	diseases
23	nsv538072	chr6:493549-700137	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv1021484	chr6:498838-691133	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv538073	chr6:498838-691133	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1017629	chr6:499448-700277	Strong transcription Active TSS Weak transcription Enhancers 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	9 gene(s)	inside rSNPs	diseases
27	nsv538074	chr6:499448-700277	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv1020426	chr6:502273-632540	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv538075	chr6:502273-632540	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv1016116	chr6:510687-700137	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
31	nsv538076	chr6:510687-700137	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	nsv1025108	chr6:531153-737291	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:517200-574400	Weak transcription	Stomach Mucosa	stomach
2	chr6:521000-564000	Weak transcription	A549	lung
3	chr6:522600-559200	Weak transcription	K562	blood
4	chr6:529000-564200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:530800-557600	Weak transcription	Psoas Muscle	Psoas
6	chr6:531000-568000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:531200-564000	Weak transcription	Fetal Brain Male	brain
8	chr6:541600-564000	Weak transcription	NHDF-Ad	bronchial
9	chr6:541800-564000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:542800-564800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:543600-559600	Weak transcription	Fetal Brain Female	brain
12	chr6:543800-562000	Weak transcription	Brain Germinal Matrix	brain
13	chr6:544200-559400	Weak transcription	Small Intestine	intestine
14	chr6:544400-561800	Weak transcription	GM12878-XiMat	blood
15	chr6:546600-571600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:549000-556200	Weak transcription	Brain Substantia Nigra	brain
17	chr6:549200-558400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:549400-559400	Weak transcription	Brain Angular Gyrus	brain
19	chr6:549400-563800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:549400-567800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:549600-558000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:549600-574000	Weak transcription	Fetal Kidney	kidney
23	chr6:550200-568200	Weak transcription	Right Atrium	heart
24	chr6:550400-559400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:550600-558000	Strong transcription	Primary T cells from cord blood	blood
26	chr6:550600-558000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr6:550600-558200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:550600-565000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:550600-565200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:550800-564800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:551400-582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:551800-557200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:551800-561200	Weak transcription	HMEC	breast
34	chr6:551800-585200	Weak transcription	Fetal Heart	heart
35	chr6:552200-561800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:552200-561800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr6:552200-564000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:552200-564400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:552200-564400	Strong transcription	Placenta	Placenta
40	chr6:552200-564800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:552400-556200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:552400-561800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:552400-568200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:552400-575000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:552600-557200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:552600-573400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:552800-558200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:552800-564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:553000-556800	Strong transcription	Adipose Nuclei	Adipose
50	chr6:553000-557400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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