Variant report

Variant	rs10208776
Chromosome Location	chr2:153323756-153323757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153190311..153192513-chr2:153322864..153325186,2	MCF-7	breast:
2	chr2:153321826..153323779-chr2:153369568..153371880,2	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10166703	0.82[CEU][hapmap]
rs10173899	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10179418	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10180542	0.83[ASN][1000 genomes]
rs10194603	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10432493	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12616906	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693378	0.83[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13011152	0.81[ASN][1000 genomes]
rs13390698	0.94[JPT][hapmap]
rs13424038	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13427076	0.94[JPT][hapmap]
rs13427990	0.93[ASN][1000 genomes]
rs16831169	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16831174	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2078444	0.99[ASN][1000 genomes]
rs2346204	0.82[CEU][hapmap]
rs2346205	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2346209	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2881339	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4143274	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4146259	0.94[JPT][hapmap]
rs4664112	0.83[ASN][1000 genomes]
rs4664587	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664589	0.80[ASN][1000 genomes]
rs4664590	0.80[ASN][1000 genomes]
rs58121347	0.86[ASN][1000 genomes]
rs59965317	0.91[ASN][1000 genomes]
rs6434059	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6434060	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434061	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434062	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6713348	0.82[ASN][1000 genomes]
rs6725661	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6737699	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6747765	0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6748954	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs73968029	0.84[ASN][1000 genomes]
rs7559217	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7582984	1.00[JPT][hapmap]
rs7586195	1.00[JPT][hapmap]
rs7587794	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7590207	0.95[ASN][1000 genomes]
rs7592283	0.96[ASN][1000 genomes]
rs7606592	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9288103	0.82[CEU][hapmap]

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	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	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
2	chr2:153318400-153327200	Enhancers	HepG2	liver
3	chr2:153318600-153323800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:153318600-153324600	Enhancers	Ovary	ovary
5	chr2:153319200-153325000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:153319400-153325600	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:153320200-153325600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr2:153320400-153324600	Enhancers	Fetal Brain Male	brain
9	chr2:153320600-153324600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:153320600-153325000	Enhancers	Psoas Muscle	Psoas
11	chr2:153320600-153328400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:153320800-153329400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:153320800-153331600	Enhancers	Hela-S3	cervix
14	chr2:153321000-153324200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:153321000-153324200	Enhancers	Right Atrium	heart
16	chr2:153321000-153326200	Enhancers	Fetal Lung	lung
17	chr2:153321000-153329600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:153321200-153324400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:153321200-153324600	Enhancers	Placenta	Placenta
20	chr2:153321200-153325400	Enhancers	A549	lung
21	chr2:153321200-153326400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:153321200-153326800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:153321400-153324400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:153321400-153324400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:153321400-153324800	Enhancers	Aorta	Aorta
26	chr2:153321400-153326200	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:153321600-153323800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:153321600-153324400	Enhancers	Gastric	stomach
29	chr2:153321600-153324600	Enhancers	Left Ventricle	heart
30	chr2:153321600-153324800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:153321600-153324800	Enhancers	Fetal Stomach	stomach
32	chr2:153321600-153325000	Enhancers	HMEC	breast
33	chr2:153321600-153326800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:153321800-153323800	Enhancers	Fetal Intestine Small	intestine
35	chr2:153321800-153325400	Enhancers	Adipose Nuclei	Adipose
36	chr2:153321800-153325600	Enhancers	Brain Anterior Caudate	brain
37	chr2:153322000-153324000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:153322000-153324200	Enhancers	Brain Hippocampus Middle	brain
39	chr2:153322000-153324600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:153322000-153324800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:153322000-153325200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:153322000-153325200	Weak transcription	HUVEC	blood vessel
43	chr2:153322000-153325600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:153322000-153325600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:153322200-153324800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:153322200-153325400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:153322400-153324000	Weak transcription	Pancreas	Pancrea
48	chr2:153322400-153325600	Weak transcription	Brain Germinal Matrix	brain
49	chr2:153322400-153326800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:153322600-153323800	Weak transcription	Fetal Brain Female	brain

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