Variant report

Variant	rs1108031
Chromosome Location	chr2:127818406-127818407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127815347..127818543-chr2:127821043..127823308,3	K562	blood:
2	chr2:127812772..127815710-chr2:127817588..127820461,3	K562	blood:
3	chr2:127815185..127819090-chr2:127820939..127825042,7	K562	blood:

Variant related genes	Relation type
ENSG00000136717	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2289236	0.94[EUR][1000 genomes]
rs3754618	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3754620	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60711884	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6431218	0.93[EUR][1000 genomes]
rs6720741	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761879	0.93[EUR][1000 genomes]
rs7557638	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7558000	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7558001	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7568161	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7594836	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7605172	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003730	chr2:127794288-127860830	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1003461	chr2:127794288-127862257	Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv516759	chr2:127796666-127859441	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1000994	chr2:127797089-127860830	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv1825024	chr2:127798138-127864285	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv459241	chr2:127800981-127868435	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv583033	chr2:127800981-127868435	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875011	chr2:127800981-127868435	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875012	chr2:127800981-127895573	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1002673	chr2:127801964-127860830	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1010577	chr2:127801964-127862257	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1011224	chr2:127802375-127860830	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1003887	chr2:127802375-127862257	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1009309	chr2:127802730-127862257	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1014290	chr2:127805366-127860830	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1010084	chr2:127805366-127862257	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv997855	chr2:127806424-127857946	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv1001673	chr2:127810478-127858634	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv1002124	chr2:127810478-127860830	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv1005423	chr2:127814781-127857751	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv997847	chr2:127814781-127858634	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv1014118	chr2:127814781-127860830	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1108031	LOC100131492	cis	brain	BrainEAC

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127802000-127818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:127802400-127822800	Weak transcription	Fetal Kidney	kidney
3	chr2:127804200-127819600	Weak transcription	Osteobl	bone
4	chr2:127804400-127820000	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr2:127804600-127819200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:127804800-127819400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:127805400-127822200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:127805800-127822200	Weak transcription	Small Intestine	intestine
9	chr2:127806400-127821800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:127806800-127819000	Weak transcription	Right Atrium	heart
11	chr2:127807000-127818800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:127807400-127821800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:127807800-127820000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:127807800-127820800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:127807800-127821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:127808200-127819000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:127808200-127819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:127808200-127822000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:127808200-127822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:127808400-127820200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:127808400-127820400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:127808400-127821200	Weak transcription	Esophagus	oesophagus
23	chr2:127808400-127822200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:127808400-127825400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:127808600-127834200	Strong transcription	Primary T cells from cord blood	blood
26	chr2:127810200-127821800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:127810200-127822400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:127810600-127821400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:127810600-127821400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:127810800-127819000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:127810800-127822200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:127811000-127822000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:127811200-127822600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:127811600-127821800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:127811600-127822000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:127812000-127822200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:127812200-127821800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:127812200-127821800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:127812600-127818800	Weak transcription	Fetal Lung	lung
40	chr2:127812600-127819400	Weak transcription	Psoas Muscle	Psoas
41	chr2:127812600-127821200	Weak transcription	A549	lung
42	chr2:127812600-127821400	Strong transcription	Gastric	stomach
43	chr2:127812600-127821800	Weak transcription	Stomach Mucosa	stomach
44	chr2:127813400-127818600	Strong transcription	Lung	lung
45	chr2:127813400-127819200	Strong transcription	Adipose Nuclei	Adipose
46	chr2:127813400-127819800	Genic enhancers	Brain Hippocampus Middle	brain
47	chr2:127813400-127821600	Strong transcription	Fetal Intestine Small	intestine
48	chr2:127813400-127822000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:127813600-127821600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:127813600-127822000	Strong transcription	Fetal Intestine Large	intestine

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