Variant report

Variant	rs1800944
Chromosome Location	chr3:46415397-46415398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46414920..46417484-chr3:47420279..47422738,2	K562	blood:
2	chr3:46414355..46417313-chr3:46422093..46423831,2	K562	blood:

Variant related genes	Relation type
ENSG00000260236	Chromatin interaction
ENSG00000076201	Chromatin interaction

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

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

rs_ID	r²[population]
rs3092956	1.00[AMR][1000 genomes]
rs3918381	1.00[AMR][1000 genomes]
rs7635373	0.87[AFR][1000 genomes]
rs7636001	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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46396000-46422000	Weak transcription	Lung	lung
2	chr3:46404400-46422200	Weak transcription	Thymus	Thymus
3	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
4	chr3:46409400-46418600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr3:46409600-46417200	Enhancers	Dnd41	blood
6	chr3:46410200-46420000	Weak transcription	Primary B cells from cord blood	blood
7	chr3:46411400-46416800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:46411400-46422000	Weak transcription	Small Intestine	intestine
9	chr3:46412000-46416600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:46412200-46415400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr3:46412600-46415400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:46412600-46416600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:46412800-46415800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:46412800-46416200	Weak transcription	Primary T cells from cord blood	blood
15	chr3:46413000-46415400	Enhancers	Placenta	Placenta
16	chr3:46413200-46415800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:46413600-46416400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:46413600-46417800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:46413800-46418400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:46414000-46418400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:46414200-46415400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr3:46414200-46416000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:46414400-46415600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr3:46414600-46415600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:46414600-46418400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:46414800-46418400	Enhancers	Primary hematopoietic stem cells	blood
27	chr3:46414800-46422000	Weak transcription	Esophagus	oesophagus
28	chr3:46415000-46415600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:46415000-46417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:46415000-46418600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr3:46415200-46415600	Enhancers	Fetal Stomach	stomach
32	chr3:46415200-46416200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:46415200-46418800	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links