Variant report

Variant	rs11610831
Chromosome Location	chr12:104197152-104197153
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
2	chr12:104183990..104193430-chr12:104193641..104204611,16	MCF-7	breast:
3	chr12:104196315..104200600-chr12:104233023..104235965,5	MCF-7	breast:
4	chr12:104163207..104165311-chr12:104196733..104198239,2	K562	blood:
5	chr12:104190724..104195360-chr12:104196501..104199658,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1043469	0.82[LWK][hapmap];0.82[MKK][hapmap]
rs11608250	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11611059	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11615701	0.83[EUR][1000 genomes]
rs11616182	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11835188	0.81[YRI][hapmap]
rs2292688	0.90[LWK][hapmap]
rs59330576	0.81[AMR][1000 genomes]
rs59991655	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61939571	0.81[AMR][1000 genomes]
rs7139029	0.85[CEU][hapmap]
rs73175815	0.82[EUR][1000 genomes]
rs73192037	0.82[AFR][1000 genomes]
rs73192039	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11610831	DRAM1	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104163600-104204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:104167200-104199800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104169000-104197800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104171800-104216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:104173800-104208800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:104177800-104207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:104185800-104198800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:104187400-104206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:104187800-104198200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:104187800-104212600	Weak transcription	GM12878-XiMat	blood
11	chr12:104190800-104198800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:104190800-104201800	Weak transcription	Gastric	stomach
13	chr12:104190800-104204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:104191000-104209800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:104191000-104211800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:104192000-104200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:104192600-104206600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:104192800-104199600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:104193000-104217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:104193600-104204000	Weak transcription	Primary T cells from cord blood	blood
21	chr12:104193800-104198200	Genic enhancers	K562	blood
22	chr12:104194000-104206800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:104194400-104207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:104194600-104197200	Enhancers	Osteobl	bone
25	chr12:104194600-104197600	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:104194600-104198800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:104194600-104199400	Weak transcription	Esophagus	oesophagus
28	chr12:104194600-104199600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:104194600-104199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:104194600-104203800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:104194600-104207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:104194600-104214600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:104194600-104214800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:104194800-104207200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:104194800-104215200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:104195000-104198000	Weak transcription	NHDF-Ad	bronchial
37	chr12:104195000-104198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:104195000-104198600	Weak transcription	Placenta	Placenta
39	chr12:104195000-104199000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:104195000-104200800	Weak transcription	Spleen	Spleen
41	chr12:104195000-104201800	Weak transcription	Stomach Mucosa	stomach
42	chr12:104195000-104203600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:104195000-104204400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:104195000-104205200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:104195000-104207800	Weak transcription	Fetal Lung	lung
46	chr12:104195000-104208600	Weak transcription	Left Ventricle	heart
47	chr12:104195000-104213800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:104195200-104199600	Weak transcription	Liver	Liver
49	chr12:104195400-104198200	Genic enhancers	Colon Smooth Muscle	Colon
50	chr12:104195600-104197800	Strong transcription	Aorta	Aorta

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