Variant report

Variant	rs3130487
Chromosome Location	chr6:31723389-31723390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1043620	0.81[EUR][1000 genomes]
rs2736177	0.80[EUR][1000 genomes]
rs2857600	0.80[EUR][1000 genomes]
rs3115669	0.82[EUR][1000 genomes]
rs9267551	0.88[EUR][1000 genomes]
rs9267576	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS 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	326 gene(s)	inside rSNPs	diseases
12	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
13	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
14	esv2763547	chr6:31715882-31738478	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31707400-31724600	Weak transcription	Fetal Heart	heart
2	chr6:31708200-31733800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:31708400-31727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:31708400-31729600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:31708400-31731000	Weak transcription	HSMMtube	muscle
6	chr6:31708400-31731200	Weak transcription	Gastric	stomach
7	chr6:31708400-31731200	Weak transcription	Lung	lung
8	chr6:31708400-31731200	Weak transcription	Right Atrium	heart
9	chr6:31708600-31728200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:31708600-31729400	Weak transcription	Fetal Lung	lung
11	chr6:31708600-31731200	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:31708600-31732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:31708600-31734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:31708800-31727400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:31708800-31727600	Weak transcription	Spleen	Spleen
16	chr6:31708800-31731200	Weak transcription	Brain Anterior Caudate	brain
17	chr6:31708800-31737400	Weak transcription	Liver	Liver
18	chr6:31709000-31726800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:31709000-31727000	Weak transcription	Primary T cells from cord blood	blood
20	chr6:31709000-31727600	Weak transcription	Colonic Mucosa	Colon
21	chr6:31709000-31738200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:31709200-31727200	Weak transcription	Brain Germinal Matrix	brain
23	chr6:31709200-31728400	Weak transcription	Stomach Mucosa	stomach
24	chr6:31709200-31737400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:31709600-31727800	Weak transcription	Hela-S3	cervix
26	chr6:31709600-31737400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:31709800-31727200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:31710000-31731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:31710600-31731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:31710800-31726400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:31710800-31731000	Weak transcription	HUVEC	blood vessel
32	chr6:31711200-31727600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:31711200-31731400	Weak transcription	Fetal Kidney	kidney
34	chr6:31711400-31726600	Weak transcription	Primary B cells from cord blood	blood
35	chr6:31712000-31726800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:31712200-31728000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:31715200-31728200	Weak transcription	HMEC	breast
38	chr6:31715200-31734000	Weak transcription	Esophagus	oesophagus
39	chr6:31715400-31727200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:31715400-31733800	Weak transcription	Ovary	ovary
41	chr6:31715400-31733800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr6:31715600-31723800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:31715600-31726400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:31715600-31727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:31715600-31727000	Weak transcription	Fetal Intestine Large	intestine
46	chr6:31715600-31727000	Weak transcription	Placenta	Placenta
47	chr6:31715600-31727000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr6:31715600-31727200	Weak transcription	Fetal Brain Female	brain
49	chr6:31715600-31727800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:31715600-31730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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