Variant report

Variant	rs10167948
Chromosome Location	chr2:208700732-208700733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:208696402..208698496-chr2:208698854..208701576,3	MCF-7	breast:
2	chr2:208627042..208629338-chr2:208699205..208701602,2	K562	blood:
3	chr2:208700518..208702352-chr2:208702442..208704973,2	K562	blood:
4	chr2:208619471..208622036-chr2:208698507..208701389,2	K562	blood:

Variant related genes	Relation type
ENSG00000264900	Chromatin interaction

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

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

rs_ID	r²[population]
rs10168314	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10193472	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12328554	1.00[AFR][1000 genomes]
rs13422757	1.00[YRI][hapmap]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208679000-208701400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:208684400-208701400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:208684600-208701200	Weak transcription	HSMMtube	muscle
4	chr2:208684600-208701600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:208685200-208701200	Weak transcription	Fetal Kidney	kidney
6	chr2:208685400-208701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:208685400-208701200	Weak transcription	Fetal Lung	lung
8	chr2:208685600-208701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:208690800-208701200	Weak transcription	Aorta	Aorta
10	chr2:208692800-208701200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:208692800-208702400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:208693000-208701400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:208693200-208701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:208693200-208701200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:208693200-208703200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:208693400-208700800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:208693400-208701200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:208693400-208701200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:208693400-208701400	Weak transcription	Lung	lung
20	chr2:208693400-208711600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:208693600-208701200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:208693600-208712000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:208693600-208772400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:208693800-208701200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:208693800-208701200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:208693800-208701200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:208693800-208701400	Weak transcription	Thymus	Thymus
28	chr2:208693800-208719800	Weak transcription	Ovary	ovary
29	chr2:208694600-208700800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:208694600-208712600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:208694600-208763200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:208694800-208701400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:208694800-208701400	Weak transcription	Placenta	Placenta
34	chr2:208695200-208701200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:208695200-208712000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:208695800-208713000	Weak transcription	Primary T cells from cord blood	blood
37	chr2:208696000-208700800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:208696600-208701200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:208696600-208701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:208696600-208701400	Weak transcription	Fetal Stomach	stomach
41	chr2:208696600-208707600	Weak transcription	Pancreas	Pancrea
42	chr2:208696800-208701200	Weak transcription	Gastric	stomach
43	chr2:208697000-208700800	Weak transcription	Liver	Liver
44	chr2:208697000-208701200	Weak transcription	Stomach Mucosa	stomach
45	chr2:208697600-208701200	Weak transcription	Colonic Mucosa	Colon
46	chr2:208698200-208701200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:208698200-208701400	Weak transcription	Small Intestine	intestine
48	chr2:208698600-208700800	Weak transcription	Fetal Intestine Small	intestine
49	chr2:208698600-208701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:208698600-208701000	Weak transcription	Brain Inferior Temporal Lobe	brain

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