Variant report

Variant	rs35349669
Chromosome Location	chr2:234068476-234068477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234068348-234068836	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:234068261-234068985	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:234068327-234068825	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:234068348-234068560	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234065647..234068985-chr2:234072062..234074764,3	K562	blood:

Variant related genes	Relation type
INPP5D	TF binding region
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10754947	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12694926	0.80[AMR][1000 genomes]
rs12694928	0.82[AMR][1000 genomes]
rs13388142	0.80[AMR][1000 genomes]
rs28429042	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28459768	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478933	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534487	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539971	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28576692	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605534	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609111	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615641	0.83[ASN][1000 genomes]
rs28631646	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28669088	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35877172	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585024	0.83[ASN][1000 genomes]
rs55801407	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62192874	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431237	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431239	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6715767	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6737719	0.83[ASN][1000 genomes]
rs67498812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558417	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7559212	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568027	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568389	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7570320	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7572798	1.00[CHD][hapmap]
rs7577360	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7581787	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7597516	0.82[AMR][1000 genomes]
rs7597763	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607736	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607812	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Alzheimer's disease (late onset)	24162737	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35349669	ASB18	cis	cerebellum	SCAN
rs35349669	C2orf52	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234052400-234074400	Weak transcription	Colonic Mucosa	Colon
2	chr2:234052600-234088400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:234053400-234077600	Weak transcription	Left Ventricle	heart
4	chr2:234053600-234070200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:234053600-234076800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:234053600-234076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:234053600-234077000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:234053800-234069000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:234053800-234070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:234053800-234071400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:234053800-234071400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:234053800-234071400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:234053800-234072400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:234053800-234072600	Strong transcription	Primary B cells from cord blood	blood
15	chr2:234053800-234073000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:234053800-234073000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:234053800-234073200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:234053800-234073200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:234053800-234073400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:234053800-234086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:234053800-234087800	Strong transcription	Fetal Thymus	thymus
22	chr2:234053800-234093200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
25	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:234054000-234073600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
28	chr2:234054600-234070000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:234054600-234076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:234056400-234074200	Weak transcription	Fetal Intestine Small	intestine
32	chr2:234056600-234078400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:234056800-234077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:234057200-234077000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:234059000-234073800	Weak transcription	Gastric	stomach
37	chr2:234060000-234087800	Weak transcription	NHEK	skin
38	chr2:234061600-234094600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:234061800-234074000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:234061800-234087600	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:234062200-234072400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:234062600-234084600	Strong transcription	GM12878-XiMat	blood
44	chr2:234064400-234069000	Strong transcription	Thymus	Thymus
45	chr2:234064400-234073000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:234064600-234070000	Strong transcription	Spleen	Spleen
47	chr2:234065400-234069000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:234065400-234069200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:234065400-234070400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:234065400-234075400	Strong transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links