Variant report

Variant	rs2930185
Chromosome Location	chr11:48039919-48039920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:48039642-48041278	H1-neurons	neurons:	n/a	chr11:48040352-48040372
2	BACH1	chr11:48039773-48040831	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:48039780-48042512	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:48039845-48042568	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48037574..48039959-chr11:48041081..48044491,3	K562	blood:
2	chr11:48035360..48038062-chr11:48039286..48041376,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254879	TF binding region
ENSG00000254879	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11039489	1.00[AMR][1000 genomes]
rs11039492	1.00[AMR][1000 genomes]
rs11039506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822835	1.00[AMR][1000 genomes]
rs11825374	1.00[AMR][1000 genomes]
rs12272622	1.00[AMR][1000 genomes]
rs12275893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228011	1.00[AMR][1000 genomes]
rs1228016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228045	1.00[AMR][1000 genomes]
rs1228051	0.91[AFR][1000 genomes]
rs12288995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290640	0.91[AFR][1000 genomes]
rs12294321	1.00[AMR][1000 genomes]
rs12294477	1.00[AMR][1000 genomes]
rs1681606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950886	0.95[AFR][1000 genomes]
rs2950889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4387319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941419	1.00[AMR][1000 genomes]
rs900700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs922959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv528641	chr11:48004369-48043053	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv428573	chr11:48032457-48152344	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48018800-48042000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:48025000-48045200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:48027400-48044000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr11:48031800-48041000	Weak transcription	K562	blood
5	chr11:48032400-48042600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:48032400-48045200	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:48032600-48041200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr11:48032600-48042800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:48032800-48042400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr11:48034000-48040200	Weak transcription	Fetal Heart	heart
11	chr11:48034600-48040800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:48035200-48040600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr11:48035400-48046200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:48035600-48053000	Weak transcription	Thymus	Thymus
15	chr11:48035600-48056600	Weak transcription	HSMM	muscle
16	chr11:48035800-48041200	Weak transcription	Right Atrium	heart
17	chr11:48035800-48042000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:48036800-48040800	Enhancers	Spleen	Spleen
19	chr11:48037400-48040400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:48037400-48041200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:48037400-48045200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:48037600-48040000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr11:48037600-48040200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:48037600-48040200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:48037600-48040200	Enhancers	Brain Cingulate Gyrus	brain
26	chr11:48037600-48040400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:48037600-48040800	Enhancers	Brain Angular Gyrus	brain
28	chr11:48037600-48040800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr11:48037600-48041000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:48037600-48041400	Enhancers	Fetal Thymus	thymus
31	chr11:48037600-48042400	Enhancers	Brain Substantia Nigra	brain
32	chr11:48037800-48046400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:48038000-48041600	Enhancers	Primary T cells from cord blood	blood
34	chr11:48038000-48052400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:48038200-48041400	Enhancers	Primary B cells from cord blood	blood
36	chr11:48038600-48040400	Enhancers	Fetal Intestine Large	intestine
37	chr11:48038600-48040800	Genic enhancers	Fetal Intestine Small	intestine
38	chr11:48038600-48041400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:48038600-48042400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:48038600-48042400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:48038800-48040200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:48038800-48040800	Enhancers	Gastric	stomach
43	chr11:48038800-48041200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:48038800-48041400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:48038800-48041600	Enhancers	Fetal Brain Male	brain
46	chr11:48038800-48042200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:48038800-48042600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:48038800-48042600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:48038800-48045000	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:48039000-48040200	Enhancers	H1 Cell Line	embryonic stem cell

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