Variant report

Variant	rs10207954
Chromosome Location	chr2:74216515-74216516
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74215681..74218530-chr2:74336371..74337878,2	MCF-7	breast:
2	chr2:74164943..74166674-chr2:74216384..74217896,2	K562	blood:
3	chr2:74146977..74148538-chr2:74216014..74218823,2	K562	blood:
4	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA3-4	chr2:74216118-74216884	NONHSAT071648

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10197238	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201998	0.83[EUR][1000 genomes]
rs10207365	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10208256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496194	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903339	0.83[EUR][1000 genomes]
rs12328448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272165	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421442	0.98[ASN][1000 genomes]
rs4852999	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705628	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6714060	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr2:74213200-74216600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:74213200-74216600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:74213200-74217200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr2:74213200-74218000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr2:74213400-74216800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:74213400-74216800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:74213400-74216800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:74213400-74220400	Weak transcription	HSMMtube	muscle
9	chr2:74214400-74216800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:74214800-74217000	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr2:74215000-74216800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:74215000-74216800	Enhancers	Left Ventricle	heart
13	chr2:74215000-74216800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
14	chr2:74215000-74217000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:74215200-74216600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:74215200-74216600	Enhancers	Pancreas	Pancrea
17	chr2:74215200-74216800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:74215200-74217400	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr2:74215200-74217400	Enhancers	Right Ventricle	heart
20	chr2:74215200-74217800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:74215400-74216600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:74215400-74216600	Genic enhancers	Primary B cells from cord blood	blood
23	chr2:74215400-74216600	Enhancers	Stomach Mucosa	stomach
24	chr2:74215400-74217000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:74215400-74217000	Enhancers	Adipose Nuclei	Adipose
26	chr2:74215400-74217200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:74215400-74220200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:74215400-74220200	Weak transcription	NHLF	lung
29	chr2:74215600-74216600	Genic enhancers	Fetal Stomach	stomach
30	chr2:74215600-74216800	Genic enhancers	Fetal Thymus	thymus
31	chr2:74215600-74217000	Genic enhancers	Thymus	Thymus
32	chr2:74215600-74217200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:74215600-74217400	Genic enhancers	Primary hematopoietic stem cells	blood
34	chr2:74215600-74217600	Genic enhancers	Esophagus	oesophagus
35	chr2:74215600-74218200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:74215600-74224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:74215800-74216600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:74215800-74216600	Genic enhancers	Fetal Intestine Small	intestine
39	chr2:74215800-74216600	Genic enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:74215800-74216800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:74215800-74216800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:74215800-74216800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:74215800-74216800	Enhancers	Fetal Brain Male	brain
44	chr2:74215800-74216800	Genic enhancers	Fetal Intestine Large	intestine
45	chr2:74215800-74216800	Genic enhancers	Fetal Muscle Leg	muscle
46	chr2:74215800-74217000	Genic enhancers	Gastric	stomach
47	chr2:74215800-74217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:74215800-74217200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:74215800-74217200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr2:74215800-74217200	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links