Variant report

Variant	rs62157964
Chromosome Location	chr2:99174469-99174470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99163397..99166242-chr2:99172917..99175701,2	MCF-7	breast:
2	chr2:99161541..99164254-chr2:99172596..99174510,2	K562	blood:
3	chr2:99166314..99169055-chr2:99172793..99174938,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12611496	1.00[AMR][1000 genomes]
rs62156353	0.86[EUR][1000 genomes]
rs62157965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62157967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
2	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99127000-99176800	Weak transcription	Right Atrium	heart
2	chr2:99133000-99176400	Weak transcription	Psoas Muscle	Psoas
3	chr2:99136400-99185400	Weak transcription	Hela-S3	cervix
4	chr2:99147200-99200200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:99148400-99211200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:99149000-99209800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:99149000-99210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:99149200-99210800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:99149600-99176200	Strong transcription	Fetal Stomach	stomach
10	chr2:99152200-99174600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr2:99152200-99177400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:99153600-99178600	Strong transcription	Fetal Intestine Large	intestine
13	chr2:99154800-99177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:99156400-99197000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:99157200-99179600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:99158000-99177400	Strong transcription	Liver	Liver
17	chr2:99158800-99190600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:99159400-99175800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:99159400-99177800	Strong transcription	Adipose Nuclei	Adipose
20	chr2:99159600-99176400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:99159800-99201600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:99160200-99176800	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:99162400-99177200	Genic enhancers	GM12878-XiMat	blood
24	chr2:99162800-99177600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:99163000-99177400	Genic enhancers	Fetal Thymus	thymus
26	chr2:99163000-99215000	Weak transcription	HMEC	breast
27	chr2:99163400-99180800	Weak transcription	Fetal Brain Male	brain
28	chr2:99163800-99194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:99164000-99175600	Weak transcription	K562	blood
30	chr2:99164400-99210800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:99165600-99177800	Strong transcription	Placenta	Placenta
32	chr2:99165800-99177000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:99166600-99178400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:99167600-99193400	Weak transcription	Fetal Heart	heart
35	chr2:99168000-99176200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:99168000-99205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:99168200-99175600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:99168200-99176000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:99168200-99176600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr2:99168400-99175600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:99168400-99178000	Strong transcription	Lung	lung
42	chr2:99168400-99210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:99168600-99175000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:99168600-99176400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:99168600-99197600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:99168800-99175600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr2:99168800-99175800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:99169000-99174800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr2:99169000-99176000	Strong transcription	Aorta	Aorta
50	chr2:99169000-99176200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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