Variant report

Variant	rs12048133
Chromosome Location	chr1:95636473-95636474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95633848..95638303-chr1:95643120..95646890,4	K562	blood:
2	chr1:95636287..95639279-chr1:95642296..95644526,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10874906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874908	0.82[ASN][1000 genomes]
rs11165314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11165317	0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165319	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165333	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165343	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11165346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11165349	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12021650	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12034397	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12036706	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037572	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12067935	0.88[AMR][1000 genomes]
rs12084387	0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs12085822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12401359	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12407571	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12408858	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1927043	0.90[ASN][1000 genomes]
rs2147587	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2148797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296308	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs259340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259341	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs259344	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs259348	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259351	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259353	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3738171	0.82[ASN][1000 genomes]
rs3753872	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3767313	0.82[ASN][1000 genomes]
rs3767315	0.82[ASN][1000 genomes]
rs3820345	0.82[ASN][1000 genomes]
rs4950024	0.82[ASN][1000 genomes]
rs547339	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs564610	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs592097	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61771764	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61771765	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61771766	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs658018	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6666528	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6671408	0.82[ASN][1000 genomes]
rs6702139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs688633	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7528790	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:95600000-95650200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:95603000-95640800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:95618400-95639200	Weak transcription	Colonic Mucosa	Colon
6	chr1:95618600-95637600	Weak transcription	Psoas Muscle	Psoas
7	chr1:95623600-95649800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:95628600-95637600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:95629000-95649800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:95629200-95637400	Weak transcription	Right Ventricle	heart
11	chr1:95630200-95644800	Weak transcription	Aorta	Aorta
12	chr1:95630200-95644800	Weak transcription	Fetal Stomach	stomach
13	chr1:95630200-95645400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:95630200-95649400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:95630400-95638000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:95630600-95655200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:95630800-95638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:95630800-95641000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:95630800-95644400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:95630800-95644800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:95633200-95639200	Weak transcription	Liver	Liver
22	chr1:95634000-95640600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:95634400-95637400	Weak transcription	Right Atrium	heart
24	chr1:95634400-95673200	Weak transcription	Gastric	stomach
25	chr1:95634600-95644800	Weak transcription	Fetal Heart	heart
26	chr1:95634800-95636800	Weak transcription	Adipose Nuclei	Adipose
27	chr1:95634800-95637400	Weak transcription	Left Ventricle	heart
28	chr1:95634800-95653400	Weak transcription	Fetal Intestine Large	intestine
29	chr1:95634800-95661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:95634800-95663800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:95635000-95636800	Enhancers	A549	lung
32	chr1:95635000-95649800	Weak transcription	HepG2	liver
33	chr1:95635400-95639000	Weak transcription	Fetal Lung	lung
34	chr1:95635800-95637200	Enhancers	K562	blood
35	chr1:95635800-95638600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:95635800-95645400	Weak transcription	Fetal Intestine Small	intestine
37	chr1:95636200-95644400	Weak transcription	Fetal Brain Male	brain

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