Variant report

Variant	rs2516395
Chromosome Location	chr6:31523216-31523217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31522295..31524853-chr6:31588484..31590478,2	MCF-7	breast:
2	chr6:31521398..31524217-chr6:31566442..31569076,2	K562	blood:
3	chr6:31521056..31523879-chr6:31632224..31633754,2	K562	blood:
4	chr6:31521753..31524731-chr6:31526185..31529000,3	MCF-7	breast:
5	chr6:31523207..31526178-chr6:31556028..31558601,2	K562	blood:
6	chr6:31520347..31523947-chr6:31524604..31528715,4	K562	blood:

Variant related genes	Relation type
ENSG00000204438	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204469	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12663590	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1800630	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2251824	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255899	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2259435	0.96[ASN][1000 genomes]
rs2429642	0.97[ASN][1000 genomes]
rs2516397	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516478	0.95[ASN][1000 genomes]
rs2516489	0.97[ASN][1000 genomes]
rs2523499	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2523501	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523503	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523506	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523512	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534652	0.96[ASN][1000 genomes]
rs2534653	0.96[ASN][1000 genomes]
rs2734586	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2857706	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
4	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
5	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
6	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
8	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
10	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
12	nsv1018463	chr6:31337336-31525275	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
13	nsv538189	chr6:31337336-31525275	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
14	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
15	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
16	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
17	nsv432877	chr6:31412961-31528690	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
18	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
19	nsv470809	chr6:31496915-31544189	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
20	nsv884417	chr6:31515078-31525354	Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31515600-31525400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:31515600-31525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:31516000-31526400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:31516000-31535800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:31516200-31525800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:31516400-31523600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:31516400-31523800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:31516400-31523800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:31516400-31523800	Weak transcription	Ovary	ovary
10	chr6:31516400-31523800	Weak transcription	Pancreas	Pancrea
11	chr6:31516400-31525400	Weak transcription	Right Atrium	heart
12	chr6:31516400-31526200	Weak transcription	Small Intestine	intestine
13	chr6:31516400-31526200	Weak transcription	NH-A	brain
14	chr6:31516400-31526200	Weak transcription	NHDF-Ad	bronchial
15	chr6:31516400-31526400	Weak transcription	A549	lung
16	chr6:31516400-31526600	Weak transcription	Psoas Muscle	Psoas
17	chr6:31516400-31527200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:31516400-31533200	Weak transcription	Fetal Brain Male	brain
19	chr6:31516600-31523800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:31516600-31523800	Weak transcription	Spleen	Spleen
21	chr6:31516600-31525200	Strong transcription	Fetal Muscle Leg	muscle
22	chr6:31516600-31529200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:31516800-31523800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:31516800-31523800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:31516800-31523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:31516800-31523800	Weak transcription	HUVEC	blood vessel
27	chr6:31516800-31530800	Weak transcription	Stomach Mucosa	stomach
28	chr6:31516800-31531000	Weak transcription	Fetal Kidney	kidney
29	chr6:31517000-31523600	Weak transcription	Brain Substantia Nigra	brain
30	chr6:31517000-31524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:31517000-31525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:31517000-31525400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:31517000-31526600	Weak transcription	Fetal Heart	heart
34	chr6:31517000-31527400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:31517400-31525400	Strong transcription	Placenta	Placenta
36	chr6:31517600-31523800	Weak transcription	NHEK	skin
37	chr6:31517600-31525200	Weak transcription	NHLF	lung
38	chr6:31517800-31524000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:31517800-31525400	Weak transcription	Left Ventricle	heart
40	chr6:31517800-31527200	Weak transcription	HMEC	breast
41	chr6:31518800-31523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:31518800-31525600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:31519000-31523600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:31519000-31525200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:31519000-31525200	Weak transcription	Adipose Nuclei	Adipose
46	chr6:31519000-31525200	Weak transcription	Brain Anterior Caudate	brain
47	chr6:31519200-31523600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:31519200-31523600	Weak transcription	Thymus	Thymus
49	chr6:31519200-31523800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:31519200-31523800	Weak transcription	Primary T cells from cord blood	blood

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