Variant report

Variant	rs7587450
Chromosome Location	chr2:153276774-153276775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153263868..153266677-chr2:153276487..153278444,2	MCF-7	breast:
2	chr2:153276442..153278166-chr2:153280321..153283147,2	K562	blood:
3	chr2:153031837..153033844-chr2:153276371..153278514,2	MCF-7	breast:
4	chr2:153271973..153274703-chr2:153276491..153278675,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

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

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

rs_ID	r²[population]
rs10931079	0.93[ASN][1000 genomes]
rs11694392	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11696004	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12476186	0.93[ASN][1000 genomes]
rs12693362	1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12999503	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13388095	1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831021	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16831082	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16831093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831100	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831118	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2345811	0.82[JPT][hapmap]
rs2345874	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2345894	0.82[JPT][hapmap]
rs2346203	0.82[JPT][hapmap]
rs2881335	0.80[ASN][1000 genomes]
rs34006820	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35662043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811576	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4254462	0.82[JPT][hapmap]
rs4664558	0.82[JPT][hapmap]
rs66663920	0.89[ASN][1000 genomes]
rs6746538	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6757782	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761178	0.93[ASN][1000 genomes]
rs67689907	0.89[ASN][1000 genomes]
rs67761838	0.86[ASN][1000 genomes]
rs73012774	0.93[ASN][1000 genomes]
rs73012784	0.93[ASN][1000 genomes]
rs7601047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:153264400-153278000	Weak transcription	Fetal Kidney	kidney
4	chr2:153264600-153277200	Enhancers	A549	lung
5	chr2:153265200-153278000	Weak transcription	Fetal Lung	lung
6	chr2:153266000-153278800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:153266200-153279000	Enhancers	Brain Angular Gyrus	brain
8	chr2:153267000-153277000	Weak transcription	NHLF	lung
9	chr2:153267000-153278800	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:153267000-153279200	Enhancers	Brain Substantia Nigra	brain
11	chr2:153268200-153277400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:153268600-153277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:153269800-153279200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:153270200-153278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:153270200-153279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:153270400-153277200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:153270400-153277400	Enhancers	Brain Hippocampus Middle	brain
18	chr2:153270400-153277600	Weak transcription	Small Intestine	intestine
19	chr2:153270400-153277800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:153270600-153279800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:153271000-153279000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:153272600-153277000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:153272600-153277000	Weak transcription	Lung	lung
24	chr2:153272600-153277200	Weak transcription	Right Ventricle	heart
25	chr2:153272600-153277400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:153272600-153277400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:153272600-153277800	Weak transcription	HSMMtube	muscle
28	chr2:153272600-153278400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:153272600-153284800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:153272600-153285400	Weak transcription	Gastric	stomach
31	chr2:153272800-153276800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:153272800-153277200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:153272800-153277400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:153272800-153277600	Weak transcription	Stomach Mucosa	stomach
35	chr2:153272800-153288200	Weak transcription	Right Atrium	heart
36	chr2:153273400-153277800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:153274000-153280800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:153274200-153277000	Weak transcription	Pancreas	Pancrea
39	chr2:153274200-153277200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:153274200-153277200	Weak transcription	Psoas Muscle	Psoas
41	chr2:153274400-153277000	Weak transcription	Adipose Nuclei	Adipose
42	chr2:153274600-153278400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:153274800-153279200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:153275000-153277800	Enhancers	NH-A	brain
45	chr2:153275000-153278400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:153275000-153279000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:153275000-153279000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:153275200-153277400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:153275200-153282600	Weak transcription	Fetal Brain Male	brain
50	chr2:153275400-153277000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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