Variant report

Variant	rs4664585
Chromosome Location	chr2:153303041-153303042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153191085..153193954-chr2:153302933..153305841,2	MCF-7	breast:
2	chr2:153302329..153304538-chr2:153320049..153322835,2	MCF-7	breast:
3	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10166703	0.84[YRI][hapmap]
rs10193625	0.85[GIH][hapmap]
rs10195380	0.88[YRI][hapmap]
rs10432494	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12468231	0.86[ASN][1000 genomes]
rs12617686	0.85[MKK][hapmap]
rs16831125	0.86[CHB][hapmap];0.95[ASN][1000 genomes]
rs2068886	0.87[GIH][hapmap]
rs2346204	0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs34968716	0.83[ASN][1000 genomes]
rs4471845	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4613221	0.80[AMR][1000 genomes]
rs61549674	0.83[ASN][1000 genomes]
rs9288103	0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
3	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
4	chr2:153291600-153305200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153295400-153311000	Weak transcription	Ovary	ovary
7	chr2:153295800-153305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:153297000-153305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:153298000-153304000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:153298800-153303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:153298800-153308800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:153299000-153305200	Enhancers	Brain Angular Gyrus	brain
13	chr2:153299800-153303400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:153299800-153305200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:153300200-153303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:153300200-153305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:153300400-153303400	Enhancers	Fetal Lung	lung
18	chr2:153300400-153303800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:153300400-153304000	Enhancers	Osteobl	bone
20	chr2:153300400-153305800	Enhancers	Adipose Nuclei	Adipose
21	chr2:153300600-153304000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:153300600-153307000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:153300600-153311200	Weak transcription	Lung	lung
24	chr2:153300800-153303400	Enhancers	Fetal Brain Female	brain
25	chr2:153300800-153306600	Enhancers	HepG2	liver
26	chr2:153301000-153303200	Enhancers	HSMMtube	muscle
27	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
28	chr2:153301200-153304000	Weak transcription	Right Ventricle	heart
29	chr2:153301200-153304200	Enhancers	NHDF-Ad	bronchial
30	chr2:153301200-153305200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:153301400-153303200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:153301400-153303400	Enhancers	NHLF	lung
33	chr2:153301400-153305200	Enhancers	HMEC	breast
34	chr2:153301600-153303400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:153301600-153307200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:153301600-153311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:153301800-153303400	Enhancers	NH-A	brain
38	chr2:153301800-153303600	Enhancers	HSMM	muscle
39	chr2:153301800-153304600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:153301800-153306200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:153301800-153307200	Weak transcription	Fetal Thymus	thymus
42	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
43	chr2:153302000-153303200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:153302000-153304200	Enhancers	HUVEC	blood vessel
45	chr2:153302000-153305200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:153302200-153303200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:153302200-153303400	Enhancers	Fetal Kidney	kidney
48	chr2:153302200-153303800	Enhancers	GM12878-XiMat	blood
49	chr2:153302400-153303200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:153302400-153303200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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