Variant report

Variant	rs10844217
Chromosome Location	chr12:32637630-32637631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1032725	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10444424	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743796	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771958	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844216	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844218	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844219	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844220	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1532657	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1566512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964035	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389037	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7296494	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7312690	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961107	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7961486	0.96[ASN][1000 genomes]
rs7977566	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv1795417	chr12:32635183-32648257	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32610800-32639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:32616000-32638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:32619600-32642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:32621800-32654000	Weak transcription	Lung	lung
6	chr12:32625000-32655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:32625200-32655200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:32627200-32638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:32629400-32643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:32629600-32643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:32630000-32638800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:32630800-32638000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:32631600-32638800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:32631800-32643600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:32632000-32643600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:32633200-32638600	Weak transcription	Fetal Intestine Large	intestine
17	chr12:32634000-32655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:32634200-32638200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:32634400-32638600	Enhancers	HUVEC	blood vessel
20	chr12:32634800-32638400	Weak transcription	Placenta	Placenta
21	chr12:32635800-32638800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:32636400-32639000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:32636600-32640800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:32636800-32637800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:32636800-32638000	Weak transcription	Fetal Intestine Small	intestine
26	chr12:32636800-32638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:32636800-32638600	Weak transcription	Adipose Nuclei	Adipose
28	chr12:32636800-32638600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:32636800-32638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:32636800-32638600	Weak transcription	HMEC	breast
31	chr12:32636800-32638600	Weak transcription	NHEK	skin
32	chr12:32636800-32638800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:32636800-32638800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:32636800-32638800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:32636800-32638800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:32636800-32638800	Weak transcription	Right Atrium	heart
37	chr12:32636800-32638800	Weak transcription	Stomach Mucosa	stomach
38	chr12:32636800-32640400	Weak transcription	Gastric	stomach
39	chr12:32636800-32640400	Weak transcription	Left Ventricle	heart
40	chr12:32636800-32640400	Weak transcription	Pancreas	Pancrea
41	chr12:32636800-32640400	Weak transcription	Psoas Muscle	Psoas
42	chr12:32636800-32642200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:32636800-32644200	Weak transcription	Right Ventricle	heart
44	chr12:32636800-32646000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:32636800-32650800	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:32637000-32638000	Weak transcription	Primary B cells from cord blood	blood
47	chr12:32637000-32638800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:32637000-32640800	Weak transcription	Fetal Heart	heart
49	chr12:32637000-32643800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:32637200-32638800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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