Variant report

Variant	rs4931631
Chromosome Location	chr12:32629495-32629496
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:14)

rs_ID	r²[population]
rs10844213	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2047641	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61927242	0.91[EUR][1000 genomes]
rs6488059	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138653	0.80[AFR][1000 genomes]
rs7309641	0.80[AFR][1000 genomes]
rs7310262	0.80[AFR][1000 genomes]
rs7310497	0.80[AFR][1000 genomes]
rs7312780	0.80[AFR][1000 genomes]
rs7954700	0.80[AFR][1000 genomes]
rs7954906	0.80[AFR][1000 genomes]
rs7966919	0.80[AFR][1000 genomes]
rs7969497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979525	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:32608600-32629600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:32610800-32636400	Weak transcription	NHEK	skin
5	chr12:32610800-32639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:32616000-32638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:32619600-32642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:32621600-32630400	Weak transcription	Fetal Kidney	kidney
9	chr12:32621600-32631200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:32621600-32636400	Weak transcription	Right Ventricle	heart
11	chr12:32621800-32630600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:32621800-32631200	Weak transcription	HUVEC	blood vessel
13	chr12:32621800-32654000	Weak transcription	Lung	lung
14	chr12:32622000-32631200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:32622200-32630400	Weak transcription	Primary B cells from cord blood	blood
16	chr12:32624200-32630600	Weak transcription	Small Intestine	intestine
17	chr12:32624800-32636400	Weak transcription	HMEC	breast
18	chr12:32625000-32629600	Weak transcription	HSMM	muscle
19	chr12:32625000-32631200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:32625000-32631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:32625000-32631600	Weak transcription	Liver	Liver
22	chr12:32625000-32636400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:32625000-32655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:32625200-32636400	Weak transcription	Gastric	stomach
25	chr12:32625200-32655200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:32627200-32638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:32627600-32631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:32627800-32629600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:32627800-32630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:32628200-32630200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:32628200-32630600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:32628200-32632000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:32628400-32629800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:32628600-32629800	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:32628600-32629800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:32628600-32630400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:32628600-32633000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:32628600-32637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:32628800-32629800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:32628800-32630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:32629000-32629600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:32629000-32629600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:32629000-32630000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:32629000-32630000	Enhancers	Fetal Intestine Small	intestine
45	chr12:32629200-32629600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:32629200-32629600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr12:32629200-32629600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:32629200-32629800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:32629200-32629800	Enhancers	Fetal Intestine Large	intestine
50	chr12:32629400-32629600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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