Variant report

Variant	rs7609345
Chromosome Location	chr2:210872052-210872053
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210869622..210872376-chr2:210883699..210885982,2	MCF-7	breast:
2	chr2:210869956..210875307-chr2:210879212..210883856,7	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10179268	1.00[ASN][1000 genomes]
rs10192315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155845	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11675027	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11682370	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989455	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009071	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13009890	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011543	1.00[ASN][1000 genomes]
rs13013030	1.00[CHB][hapmap]
rs13015354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017647	0.81[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018349	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019613	1.00[ASN][1000 genomes]
rs13021055	1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415601	1.00[ASN][1000 genomes]
rs1509568	1.00[CHB][hapmap]
rs1509570	1.00[ASN][1000 genomes]
rs1509571	1.00[ASN][1000 genomes]
rs1509572	1.00[ASN][1000 genomes]
rs16844058	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2160020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2539005	1.00[ASN][1000 genomes]
rs263668	1.00[ASN][1000 genomes]
rs263675	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs263680	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs263681	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs263686	1.00[ASN][1000 genomes]
rs34334556	1.00[ASN][1000 genomes]
rs34678259	1.00[ASN][1000 genomes]
rs35125543	1.00[ASN][1000 genomes]
rs62202972	1.00[ASN][1000 genomes]
rs6714161	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716836	1.00[ASN][1000 genomes]
rs6732072	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732486	1.00[ASN][1000 genomes]
rs6732506	1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760874	1.00[ASN][1000 genomes]
rs71350736	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised 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
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210868000-210872600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:210868000-210874400	Weak transcription	Lung	lung
3	chr2:210868000-210920000	Weak transcription	Spleen	Spleen
4	chr2:210868200-210872200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:210868200-210872800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:210868200-210879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:210868200-210880000	Weak transcription	Aorta	Aorta
8	chr2:210868200-210880000	Weak transcription	Esophagus	oesophagus
9	chr2:210868200-210883200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:210868400-210872200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:210868400-210872400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:210868400-210872600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:210868400-210872600	Weak transcription	Right Ventricle	heart
14	chr2:210868400-210872800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:210868400-210873200	Weak transcription	Left Ventricle	heart
16	chr2:210868400-210874000	Enhancers	Fetal Heart	heart
17	chr2:210868400-210876000	Weak transcription	Placenta	Placenta
18	chr2:210868400-210879800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:210868400-210880600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:210868400-210899000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:210868800-210872200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:210869000-210872400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:210869000-210874000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:210869000-210881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:210869200-210872600	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:210869200-210872800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:210869200-210873000	Weak transcription	Fetal Stomach	stomach
28	chr2:210869200-210873800	Weak transcription	NH-A	brain
29	chr2:210869200-210874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:210869200-210875800	Weak transcription	NHLF	lung
31	chr2:210869200-210878400	Weak transcription	Osteobl	bone
32	chr2:210869200-210879600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:210869200-210879600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:210869200-210880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:210869200-210880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:210869200-210880600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:210869400-210872600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:210869400-210873000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:210869400-210873800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:210869400-210879800	Weak transcription	HSMMtube	muscle
41	chr2:210869400-210880000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:210869400-210880800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:210869400-210883000	Weak transcription	Colonic Mucosa	Colon
44	chr2:210869400-210891400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:210869600-210872600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:210869600-210872600	Weak transcription	HUVEC	blood vessel
47	chr2:210869600-210872800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:210869600-210874400	Weak transcription	NHDF-Ad	bronchial
49	chr2:210869600-210879800	Weak transcription	Fetal Kidney	kidney
50	chr2:210870000-210872600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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