Variant report

Variant	rs11675867
Chromosome Location	chr2:234102250-234102251
allele	A/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	chr2:234102180-234102871	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234098066..234100017-chr2:234100835..234103000,2	K562	blood:
2	chr2:234100503..234103423-chr2:234114433..234117348,2	K562	blood:

Variant related genes	Relation type
INPP5D	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10168693	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10176734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929185	0.82[ASN][1000 genomes]
rs11681058	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13027728	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34888825	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890760	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3924334	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6719549	0.81[ASN][1000 genomes]
rs6722529	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527354	chr2:234093805-234118882	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
3	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
5	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:234074200-234111200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:234074600-234122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:234075200-234111800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:234075200-234117000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:234075400-234111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:234075400-234113800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:234075400-234115200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:234077200-234117200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:234077800-234106400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:234078200-234110000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:234085200-234107200	Strong transcription	Thymus	Thymus
19	chr2:234089000-234102400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:234089000-234111200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:234089000-234111400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:234089200-234111400	Weak transcription	Left Ventricle	heart
23	chr2:234089400-234111000	Strong transcription	Fetal Thymus	thymus
24	chr2:234089800-234106000	Weak transcription	Fetal Intestine Small	intestine
25	chr2:234090200-234113800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:234091400-234111200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:234091800-234111200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:234092800-234107400	Strong transcription	Lung	lung
29	chr2:234094000-234111400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:234094600-234105200	Weak transcription	Fetal Brain Male	brain
31	chr2:234095000-234107400	Strong transcription	Adipose Nuclei	Adipose
32	chr2:234095200-234110800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:234095200-234111200	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:234095200-234111600	Weak transcription	Brain Anterior Caudate	brain
35	chr2:234095800-234107400	Strong transcription	GM12878-XiMat	blood
36	chr2:234095800-234109800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:234098200-234109800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:234098400-234107200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:234098600-234105200	Weak transcription	Colonic Mucosa	Colon
40	chr2:234098600-234108600	Strong transcription	Spleen	Spleen
41	chr2:234098800-234104800	Weak transcription	Gastric	stomach
42	chr2:234098800-234106600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:234098800-234109000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:234099200-234111400	Weak transcription	Right Ventricle	heart
45	chr2:234099400-234102400	Weak transcription	HepG2	liver
46	chr2:234099600-234102600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:234099600-234102800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:234099600-234105800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:234099600-234106200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:234099600-234109600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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