Variant report

Variant	rs56241315
Chromosome Location	chr1:9830921-9830922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6701993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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 target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv2298	chr1:9826286-9857487	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:9801200-9837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
3	chr1:9804400-9836600	Weak transcription	Small Intestine	intestine
4	chr1:9804600-9836600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:9810000-9832400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:9811600-9832400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:9811600-9832400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:9811800-9832400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
10	chr1:9812400-9832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:9812800-9831000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:9813600-9831800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:9813600-9832400	Weak transcription	Right Ventricle	heart
14	chr1:9813800-9832400	Weak transcription	Adipose Nuclei	Adipose
15	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
16	chr1:9815400-9831600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:9815400-9832400	Weak transcription	Fetal Intestine Large	intestine
18	chr1:9815400-9832600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:9816400-9831800	Weak transcription	Brain Germinal Matrix	brain
20	chr1:9816600-9842400	Weak transcription	HUVEC	blood vessel
21	chr1:9820200-9832400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:9820400-9831600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:9820400-9832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:9820400-9832600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:9820400-9832600	Weak transcription	Ovary	ovary
26	chr1:9820600-9832400	Weak transcription	Left Ventricle	heart
27	chr1:9820600-9832600	Weak transcription	Fetal Lung	lung
28	chr1:9820600-9836200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:9821000-9832400	Weak transcription	Esophagus	oesophagus
30	chr1:9821200-9832400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:9821200-9832400	Weak transcription	HepG2	liver
32	chr1:9822000-9832400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:9822000-9832400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:9822000-9832400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:9822200-9831800	Weak transcription	Placenta	Placenta
36	chr1:9822200-9844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:9822400-9832400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:9822800-9832200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:9822800-9832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:9824200-9831600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:9824200-9831800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:9824200-9846800	Weak transcription	Spleen	Spleen
43	chr1:9824600-9831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:9824600-9831600	Weak transcription	Dnd41	blood
45	chr1:9824600-9832400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:9824600-9832400	Weak transcription	Lung	lung
47	chr1:9824600-9832800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:9825000-9831800	Weak transcription	Primary T cells from cord blood	blood
49	chr1:9825000-9832200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:9825000-9832400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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