Variant report

Variant	rs12663590
Chromosome Location	chr6:31531478-31531479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31529683..31532645-chr6:31541228..31544283,3	K562	blood:
2	chr6:31531244..31533520-chr6:31586649..31589505,2	K562	blood:
3	chr6:31519629..31522275-chr6:31530293..31533354,3	K562	blood:
4	chr6:31526758..31532788-chr6:31533564..31537563,8	K562	blood:
5	chr6:31529623..31531832-chr6:31546596..31549041,2	K562	blood:
6	chr6:31529234..31533520-chr6:31586129..31590672,6	K562	blood:
7	chr6:31519386..31522275-chr6:31529123..31531793,2	K562	blood:
8	chr6:31530911..31532754-chr6:31540211..31541792,2	MCF-7	breast:
9	chr6:31529423..31531905-chr6:31555103..31557891,2	MCF-7	breast:
10	chr6:31527769..31531613-chr6:31630147..31633759,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204482	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000232810	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000201207	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1799964	0.81[ASN][1000 genomes]
rs1800630	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251824	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255899	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2259435	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2429642	0.97[ASN][1000 genomes]
rs2516395	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516397	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516478	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516489	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523499	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2523501	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523503	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523506	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2523512	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534652	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534653	0.96[ASN][1000 genomes]
rs2734586	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844480	0.81[AMR][1000 genomes]
rs2857706	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
13	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
14	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
15	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
16	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
17	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
18	nsv462870	chr6:31528130-31544189	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv601941	chr6:31528130-31544189	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31516000-31535800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:31516400-31533200	Weak transcription	Fetal Brain Male	brain
3	chr6:31526400-31532600	Weak transcription	Fetal Lung	lung
4	chr6:31527400-31535400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:31527400-31535400	Weak transcription	HepG2	liver
6	chr6:31528000-31532000	Enhancers	Spleen	Spleen
7	chr6:31528000-31535200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:31528200-31531600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:31528200-31532000	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:31528200-31532000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:31528200-31532000	Enhancers	HUVEC	blood vessel
12	chr6:31528200-31535600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:31528400-31531600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:31528400-31535400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:31528600-31532000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:31528600-31532200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:31528600-31535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:31528600-31541200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:31528800-31531800	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:31528800-31532000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:31528800-31532000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:31528800-31535600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:31529000-31531600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:31529000-31531800	Weak transcription	NHDF-Ad	bronchial
25	chr6:31529000-31535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:31529000-31535200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:31529000-31535800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:31529000-31536600	Weak transcription	Dnd41	blood
29	chr6:31529000-31541200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:31529200-31531600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:31529200-31531800	Enhancers	Primary B cells from cord blood	blood
32	chr6:31529200-31532200	Weak transcription	Fetal Brain Female	brain
33	chr6:31529200-31532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:31529200-31532800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:31529200-31533400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:31529200-31533600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:31529200-31534800	Weak transcription	Primary T cells from cord blood	blood
38	chr6:31529200-31534800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:31529200-31535200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:31529200-31535200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:31529200-31535400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:31529200-31535600	Weak transcription	Esophagus	oesophagus
43	chr6:31529400-31533400	Weak transcription	Brain Germinal Matrix	brain
44	chr6:31529400-31533400	Weak transcription	Fetal Stomach	stomach
45	chr6:31529400-31539800	Weak transcription	Thymus	Thymus
46	chr6:31529600-31533000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:31529800-31535200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:31530000-31533000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:31530000-31534800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:31530400-31532000	Enhancers	Muscle Satellite Cultured Cells	--

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