Variant report

Variant	rs9967814
Chromosome Location	chr2:153374713-153374714
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10180234	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10182254	0.82[CHB][hapmap]
rs10207275	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12612608	0.82[CHB][hapmap]
rs13404703	0.82[CHB][hapmap]
rs13427485	0.82[CHB][hapmap]
rs1545134	0.86[ASN][1000 genomes]
rs16831261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16831265	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2346181	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346182	0.82[CHB][hapmap]
rs2459776	0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2577176	0.86[ASN][1000 genomes]
rs2577180	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2577181	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2678294	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2678303	0.86[ASN][1000 genomes]
rs2678304	0.86[ASN][1000 genomes]
rs2678305	0.85[ASN][1000 genomes]
rs4664592	0.82[CHB][hapmap]
rs4664593	0.82[CHB][hapmap]
rs4664594	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs56281840	0.82[AMR][1000 genomes]
rs6717982	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6720532	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6721601	0.90[ASN][1000 genomes]
rs6760139	0.85[ASN][1000 genomes]
rs73002191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7421149	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7591606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7595822	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
2	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
4	chr2:153365000-153377600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:153365400-153377200	Weak transcription	Small Intestine	intestine
6	chr2:153365600-153375200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
8	chr2:153368600-153375200	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:153370400-153375200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:153370400-153375400	Weak transcription	NH-A	brain
11	chr2:153370600-153375000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:153370600-153375200	Weak transcription	Aorta	Aorta
13	chr2:153370600-153375200	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:153370600-153375600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:153370800-153375200	Enhancers	Brain Hippocampus Middle	brain
16	chr2:153370800-153375800	Weak transcription	Osteobl	bone
17	chr2:153371000-153375200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:153371000-153375800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:153371000-153379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:153371600-153375200	Weak transcription	Psoas Muscle	Psoas
21	chr2:153372200-153375200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:153373000-153380200	Weak transcription	Brain Germinal Matrix	brain
23	chr2:153373800-153375400	Enhancers	HepG2	liver
24	chr2:153373800-153375600	Enhancers	Ovary	ovary
25	chr2:153373800-153375800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:153373800-153376200	Enhancers	NHEK	skin
27	chr2:153373800-153376400	Enhancers	Brain Angular Gyrus	brain
28	chr2:153373800-153377600	Enhancers	Fetal Intestine Small	intestine
29	chr2:153374200-153375200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:153374200-153375200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:153374200-153375400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:153374200-153376000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:153374200-153376000	Enhancers	Duodenum Mucosa	Duodenum
34	chr2:153374200-153376000	Enhancers	Fetal Intestine Large	intestine
35	chr2:153374200-153376200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:153374400-153375000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:153374400-153375200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:153374400-153375200	Enhancers	HMEC	breast
39	chr2:153374400-153375400	Enhancers	Brain Anterior Caudate	brain
40	chr2:153374400-153376000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:153374400-153376600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:153374400-153381200	Weak transcription	Gastric	stomach
43	chr2:153374600-153374800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:153374600-153375200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr2:153374600-153375400	Enhancers	A549	lung
46	chr2:153374600-153375600	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr2:153374600-153376000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:153374600-153378400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:153374600-153385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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