Variant report

Variant	rs4669604
Chromosome Location	chr2:10823493-10823494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10819657..10821500-chr2:10821879..10824804,2	K562	blood:
2	chr2:10816644..10819055-chr2:10820905..10823726,2	K562	blood:
3	chr2:10822225..10825450-chr2:10827057..10830175,3	MCF-7	breast:
4	chr2:10816629..10819592-chr2:10820198..10823726,5	K562	blood:

Variant related genes	Relation type
ENSG00000115761	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1387567	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4380198	0.94[AFR][1000 genomes]
rs6748766	1.00[AFR][1000 genomes]
rs7603290	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
3	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
4	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10794000-10823600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10794600-10828200	Weak transcription	Stomach Mucosa	stomach
7	chr2:10794600-10828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:10797400-10823600	Weak transcription	Psoas Muscle	Psoas
10	chr2:10799200-10826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:10802400-10828200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:10803600-10828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:10805000-10823600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:10805000-10829200	Weak transcription	Aorta	Aorta
16	chr2:10806200-10828200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:10806600-10823600	Weak transcription	Ovary	ovary
18	chr2:10807600-10828000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:10808200-10828000	Weak transcription	Gastric	stomach
20	chr2:10808200-10828400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:10808400-10828000	Weak transcription	NHLF	lung
22	chr2:10810200-10826600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:10810400-10824800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:10811600-10824800	Strong transcription	HepG2	liver
25	chr2:10812400-10826400	Weak transcription	Spleen	Spleen
26	chr2:10812400-10827400	Weak transcription	Esophagus	oesophagus
27	chr2:10812400-10827400	Weak transcription	Right Ventricle	heart
28	chr2:10813200-10823600	Weak transcription	Pancreas	Pancrea
29	chr2:10813200-10826400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:10813200-10827400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:10813200-10828000	Weak transcription	Lung	lung
32	chr2:10813200-10828200	Weak transcription	Small Intestine	intestine
33	chr2:10813200-10828400	Weak transcription	HSMMtube	muscle
34	chr2:10813200-10829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:10815000-10827600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:10815400-10823600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:10816000-10826600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:10816400-10823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:10816400-10827400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:10816600-10823600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:10816600-10826600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:10816600-10826800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:10816800-10826600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:10817200-10824000	Strong transcription	Primary T cells from cord blood	blood
45	chr2:10817600-10825200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:10817600-10825800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:10817800-10825000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:10817800-10829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:10818000-10825800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:10818400-10828200	Weak transcription	Fetal Intestine Large	intestine

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