Variant report

Variant	rs1878632
Chromosome Location	chr2:153323158-153323159
allele	G/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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10169514	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10191361	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11684450	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11902693	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471183	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1579050	0.90[ASN][1000 genomes]
rs17399080	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.84[AMR][1000 genomes]
rs2346206	0.90[ASN][1000 genomes]
rs3811574	1.00[CHD][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs4664109	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs4664586	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55882252	0.90[ASN][1000 genomes]
rs56117902	0.86[AMR][1000 genomes]
rs62180799	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62180804	0.90[ASN][1000 genomes]
rs6434068	0.90[ASN][1000 genomes]
rs6714213	1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs6731738	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6742066	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6744391	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6759772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153309400-153323600	Enhancers	Brain Angular Gyrus	brain
2	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
3	chr2:153318400-153327200	Enhancers	HepG2	liver
4	chr2:153318600-153323800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:153318600-153324600	Enhancers	Ovary	ovary
6	chr2:153319200-153325000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:153319400-153325600	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:153320200-153325600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:153320400-153323600	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:153320400-153324600	Enhancers	Fetal Brain Male	brain
11	chr2:153320600-153324600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:153320600-153325000	Enhancers	Psoas Muscle	Psoas
13	chr2:153320600-153328400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:153320800-153329400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:153320800-153331600	Enhancers	Hela-S3	cervix
16	chr2:153321000-153323200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:153321000-153324200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:153321000-153324200	Enhancers	Right Atrium	heart
19	chr2:153321000-153326200	Enhancers	Fetal Lung	lung
20	chr2:153321000-153329600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:153321200-153324400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:153321200-153324600	Enhancers	Placenta	Placenta
23	chr2:153321200-153325400	Enhancers	A549	lung
24	chr2:153321200-153326400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:153321200-153326800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:153321400-153324400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:153321400-153324400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:153321400-153324800	Enhancers	Aorta	Aorta
29	chr2:153321400-153326200	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:153321600-153323200	Enhancers	GM12878-XiMat	blood
31	chr2:153321600-153323400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:153321600-153323400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:153321600-153323400	Enhancers	Right Ventricle	heart
34	chr2:153321600-153323800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:153321600-153324400	Enhancers	Gastric	stomach
36	chr2:153321600-153324600	Enhancers	Left Ventricle	heart
37	chr2:153321600-153324800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:153321600-153324800	Enhancers	Fetal Stomach	stomach
39	chr2:153321600-153325000	Enhancers	HMEC	breast
40	chr2:153321600-153326800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:153321800-153323200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:153321800-153323200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:153321800-153323200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:153321800-153323400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:153321800-153323400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:153321800-153323800	Enhancers	Fetal Intestine Small	intestine
47	chr2:153321800-153325400	Enhancers	Adipose Nuclei	Adipose
48	chr2:153321800-153325600	Enhancers	Brain Anterior Caudate	brain
49	chr2:153322000-153323200	Weak transcription	Spleen	Spleen
50	chr2:153322000-153323600	Enhancers	NH-A	brain

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