Variant report

Variant	rs17031912
Chromosome Location	chr2:99071048-99071049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99057075..99059520-chr2:99070798..99073720,2	K562	blood:
2	chr2:99066884..99071356-chr2:99073843..99078046,5	MCF-7	breast:
3	chr2:99060752..99063329-chr2:99069917..99072257,2	K562	blood:

Variant related genes	Relation type
ENSG00000040933	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10184555	1.00[AMR][1000 genomes]
rs13007839	0.94[AFR][1000 genomes]
rs13395005	1.00[AMR][1000 genomes]
rs13429817	1.00[AMR][1000 genomes]
rs17021866	1.00[AMR][1000 genomes]
rs17031804	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031975	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032010	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17032916	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9631039	1.00[AMR][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99063000-99071600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:99063000-99071800	Weak transcription	Liver	Liver
3	chr2:99063600-99072200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:99063600-99072200	Enhancers	Fetal Thymus	thymus
5	chr2:99063600-99072400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:99063600-99075600	Weak transcription	Brain Germinal Matrix	brain
7	chr2:99063800-99072200	Weak transcription	Aorta	Aorta
8	chr2:99064000-99071800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:99064400-99071800	Weak transcription	Fetal Brain Male	brain
10	chr2:99065400-99071200	Enhancers	Thymus	Thymus
11	chr2:99065400-99071800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:99065600-99072000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr2:99065600-99072200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:99065600-99079600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:99065600-99079600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:99065800-99071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:99065800-99071400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:99066200-99072200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:99066200-99075800	Weak transcription	Psoas Muscle	Psoas
20	chr2:99066600-99071600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:99066800-99075400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:99067000-99072000	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:99067000-99072000	Enhancers	Stomach Smooth Muscle	stomach
24	chr2:99067600-99071800	Enhancers	Primary B cells from cord blood	blood
25	chr2:99067600-99072600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:99067600-99073000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:99068000-99073000	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:99068000-99073600	Weak transcription	NHEK	skin
29	chr2:99068200-99071400	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:99068200-99071600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr2:99068400-99071400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:99068400-99072000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:99068400-99072600	Enhancers	Spleen	Spleen
34	chr2:99068600-99071600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:99068600-99071800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:99068600-99073600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:99068800-99072000	Weak transcription	Pancreas	Pancrea
38	chr2:99068800-99072000	Enhancers	Dnd41	blood
39	chr2:99068800-99073600	Weak transcription	Ovary	ovary
40	chr2:99068800-99075200	Weak transcription	Right Ventricle	heart
41	chr2:99068800-99079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:99069000-99071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:99069000-99072400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:99069200-99071800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr2:99069200-99072600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:99069200-99072600	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:99069400-99072000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:99069600-99071200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:99069600-99073000	Enhancers	Colon Smooth Muscle	Colon
50	chr2:99069600-99075600	Weak transcription	Brain Angular Gyrus	brain

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