Variant report

Variant	rs12749496
Chromosome Location	chr1:161021893-161021894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160989179..160991784-chr1:161020756..161022798,2	K562	blood:
2	chr1:160991163..160993549-chr1:161020053..161022442,2	MCF-7	breast:
3	chr1:161020801..161022470-chr1:161048503..161051319,2	K562	blood:
4	chr1:161021235..161023633-chr1:161088651..161090461,2	K562	blood:
5	chr1:161021301..161022006-chr7:26239928..26240731,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000158769	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10797091	0.83[ASN][1000 genomes]
rs2516840	0.88[AFR][1000 genomes]
rs2516841	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2774276	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4396136	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12749496	F11R	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161016200-161022600	Weak transcription	Gastric	stomach
2	chr1:161016400-161022600	Weak transcription	Small Intestine	intestine
3	chr1:161016400-161037800	Weak transcription	Colonic Mucosa	Colon
4	chr1:161016600-161022200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:161016600-161024200	Weak transcription	Right Ventricle	heart
6	chr1:161016600-161028000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:161016800-161029200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:161017000-161022000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:161017000-161024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:161017000-161029400	Strong transcription	Primary T cells from cord blood	blood
11	chr1:161017000-161031600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:161017000-161032200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:161017200-161022000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:161017200-161029200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:161017200-161030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:161017400-161022600	Weak transcription	K562	blood
17	chr1:161017400-161027400	Strong transcription	Primary hematopoietic stem cells	blood
18	chr1:161017400-161027400	Strong transcription	Dnd41	blood
19	chr1:161017400-161030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:161017400-161031000	Strong transcription	Thymus	Thymus
21	chr1:161017600-161024000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:161017600-161034400	Strong transcription	Fetal Thymus	thymus
23	chr1:161017800-161024400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:161017800-161026200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:161018000-161025800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:161018000-161027400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:161018200-161026800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:161018400-161026000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:161018400-161026400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:161018400-161027400	Strong transcription	GM12878-XiMat	blood
31	chr1:161018600-161024200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:161018600-161032400	Strong transcription	Primary B cells from cord blood	blood
33	chr1:161018600-161033600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:161018800-161022200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:161018800-161028200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:161019000-161026600	Strong transcription	Placenta	Placenta
37	chr1:161019400-161026000	Strong transcription	Spleen	Spleen
38	chr1:161019400-161029400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:161019600-161022600	Weak transcription	Adipose Nuclei	Adipose
40	chr1:161019600-161023400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:161019800-161025800	Weak transcription	Liver	Liver
42	chr1:161020200-161024200	Weak transcription	Fetal Intestine Small	intestine
43	chr1:161020800-161022200	Enhancers	HepG2	liver
44	chr1:161020800-161024600	Strong transcription	Esophagus	oesophagus
45	chr1:161020800-161024800	Strong transcription	Lung	lung
46	chr1:161020800-161027400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:161021000-161022800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:161021000-161022800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:161021000-161025200	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr1:161021400-161022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links