Variant report

Variant	rs11897617
Chromosome Location	chr2:234350259-234350260
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234348050..234350762-chr2:234350951..234353188,2	K562	blood:
2	chr2:234345589..234349550-chr2:234350217..234354026,5	K562	blood:
3	chr2:234347469..234349054-chr2:234349508..234351130,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10207915	0.85[ASN][1000 genomes]
rs1097930	0.85[ASN][1000 genomes]
rs1097931	0.88[ASN][1000 genomes]
rs11888993	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1220430	0.82[ASN][1000 genomes]
rs13391864	0.82[ASN][1000 genomes]
rs13393578	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13400471	0.97[ASN][1000 genomes]
rs13403169	0.97[ASN][1000 genomes]
rs13406462	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13406655	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1470864	0.90[ASN][1000 genomes]
rs2167885	0.90[ASN][1000 genomes]
rs2305541	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602387	0.85[ASN][1000 genomes]
rs2602389	0.85[ASN][1000 genomes]
rs2603545	0.85[ASN][1000 genomes]
rs2603547	0.90[ASN][1000 genomes]
rs28588417	0.82[ASN][1000 genomes]
rs2924811	0.92[ASN][1000 genomes]
rs2924813	0.82[ASN][1000 genomes]
rs2971862	0.92[ASN][1000 genomes]
rs2971863	0.92[ASN][1000 genomes]
rs2971864	0.92[ASN][1000 genomes]
rs2971867	0.92[ASN][1000 genomes]
rs2971869	0.82[ASN][1000 genomes]
rs2971871	0.80[ASN][1000 genomes]
rs2971872	0.80[ASN][1000 genomes]
rs4233627	0.85[ASN][1000 genomes]
rs59458664	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6713866	0.95[ASN][1000 genomes]
rs73117551	0.92[EUR][1000 genomes]
rs73117559	0.80[ASN][1000 genomes]
rs7572257	0.97[ASN][1000 genomes]
rs7572310	0.84[ASN][1000 genomes]
rs7599285	0.85[ASN][1000 genomes]
rs7724	0.82[ASN][1000 genomes]
rs838543	0.85[ASN][1000 genomes]
rs838544	0.85[ASN][1000 genomes]
rs838545	0.85[ASN][1000 genomes]
rs838548	0.85[ASN][1000 genomes]
rs838549	0.85[ASN][1000 genomes]
rs838550	0.85[ASN][1000 genomes]
rs838551	0.85[ASN][1000 genomes]
rs838552	0.85[ASN][1000 genomes]
rs838555	0.85[ASN][1000 genomes]
rs838559	0.90[ASN][1000 genomes]
rs860794	0.80[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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
3	chr2:234335200-234357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:234338000-234358000	Weak transcription	NH-A	brain
5	chr2:234338400-234362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:234338800-234360800	Weak transcription	HMEC	breast
7	chr2:234339200-234360000	Weak transcription	K562	blood
8	chr2:234339600-234354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
10	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
11	chr2:234341600-234357400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:234341800-234354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:234342800-234351600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:234342800-234354800	Weak transcription	Fetal Kidney	kidney
15	chr2:234342800-234358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:234343000-234350600	Genic enhancers	Gastric	stomach
17	chr2:234343000-234351000	Strong transcription	Colonic Mucosa	Colon
18	chr2:234343000-234351800	Strong transcription	Fetal Thymus	thymus
19	chr2:234343000-234352000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:234343000-234352000	Strong transcription	Liver	Liver
21	chr2:234343000-234352000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
23	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:234343200-234350400	Strong transcription	Rectal Smooth Muscle	rectum
25	chr2:234343200-234350800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:234343200-234351000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:234343200-234351600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:234343200-234351600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:234343200-234352000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:234343200-234352000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:234343200-234352200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:234343200-234352200	Strong transcription	Fetal Stomach	stomach
33	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:234343400-234350800	Strong transcription	Aorta	Aorta
35	chr2:234343400-234351000	Strong transcription	Thymus	Thymus
36	chr2:234343400-234357400	Strong transcription	Fetal Intestine Small	intestine
37	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:234343600-234357600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:234343600-234359400	Strong transcription	Lung	lung
40	chr2:234344000-234350400	Strong transcription	GM12878-XiMat	blood
41	chr2:234344000-234350800	Strong transcription	Pancreas	Pancrea
42	chr2:234344000-234351800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:234344000-234357600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:234344000-234366200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:234344200-234352200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
49	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:234344400-234350600	Strong transcription	Primary hematopoietic stem cells	blood

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