Variant report

Variant	rs17035931
Chromosome Location	chr2:47182032-47182033
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47179225..47182053-chr2:47271566..47273267,2	K562	blood:
2	chr2:47174154..47179572-chr2:47181486..47185069,4	MCF-7	breast:
3	chr2:47167363..47169849-chr2:47180140..47182205,3	MCF-7	breast:
4	chr2:47181119..47183669-chr2:47402137..47404720,3	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12479328	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13387604	0.85[JPT][hapmap]
rs13401423	0.87[ASN][1000 genomes]
rs13404033	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13426875	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13432506	0.84[CHD][hapmap]
rs17036028	0.84[CHD][hapmap]
rs2033533	0.82[JPT][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]
rs2304286	0.90[CHD][hapmap]
rs4542901	0.90[CHD][hapmap]
rs7607346	0.81[CHD][hapmap]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17035931	LOC100129726	cis	parietal	SCAN
rs17035931	EPCAM	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169600-47183600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:47169800-47182200	Weak transcription	Right Ventricle	heart
3	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
4	chr2:47170000-47182200	Weak transcription	Psoas Muscle	Psoas
5	chr2:47170800-47184000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:47171000-47182600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:47171200-47182400	Weak transcription	Small Intestine	intestine
8	chr2:47173000-47191800	Weak transcription	Fetal Brain Male	brain
9	chr2:47173400-47184000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:47174000-47182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:47174200-47183800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:47174200-47184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:47176400-47192600	Strong transcription	Dnd41	blood
15	chr2:47177200-47185000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:47177200-47210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:47177400-47192800	Strong transcription	Fetal Stomach	stomach
18	chr2:47177600-47182800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:47177600-47183200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:47177600-47188200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:47177600-47190000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:47177600-47191200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:47178400-47182200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:47178400-47183800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:47178400-47183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:47178400-47188000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:47178400-47192800	Strong transcription	Thymus	Thymus
28	chr2:47178600-47182200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:47178600-47183800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:47178600-47189800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:47178800-47189400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:47178800-47190000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:47178800-47191400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:47179000-47188200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:47179000-47191000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:47179000-47192800	Strong transcription	Primary T cells from cord blood	blood
37	chr2:47179200-47182200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:47179200-47195000	Strong transcription	Fetal Thymus	thymus
39	chr2:47179400-47182400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:47179400-47183800	Weak transcription	Gastric	stomach
41	chr2:47179400-47184200	Weak transcription	Brain Germinal Matrix	brain
42	chr2:47179400-47189600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:47179400-47191400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:47179400-47192200	Strong transcription	Primary B cells from cord blood	blood
45	chr2:47179400-47192600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:47179400-47193800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:47179800-47189400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:47180000-47182200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:47180000-47182400	Weak transcription	Left Ventricle	heart
50	chr2:47180000-47184000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links