Variant report

Variant	rs701906
Chromosome Location	chr1:212549544-212549545
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	chr1:212549233..212551182-chr1:212586836..212589324,2	K562	blood:
2	chr1:212548749..212550698-chr1:212631997..212633826,2	K562	blood:

Variant related genes	Relation type
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12725070	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1444692	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1774252	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2921127	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2921128	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2921129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2995255	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2995256	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2995257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2995258	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3121291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351383	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs351395	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs351397	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs351416	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes]
rs4554777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951584	0.94[CEU][hapmap]
rs6674587	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs701907	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs792433	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs792434	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs792440	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs792441	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs792442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs792443	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs792444	0.88[AFR][1000 genomes]
rs812074	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv3418305	chr1:212549129-212552427	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
2	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:212523600-212550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:212524400-212554600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:212526800-212550800	Weak transcription	HSMMtube	muscle
7	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
8	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
9	chr1:212529000-212550800	Weak transcription	NHLF	lung
10	chr1:212529400-212562400	Strong transcription	Dnd41	blood
11	chr1:212529800-212563200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:212530200-212552600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212531600-212550000	Weak transcription	Pancreas	Pancrea
14	chr1:212531800-212550400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:212532200-212550400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:212532400-212560200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:212533400-212557000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:212533800-212552800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:212534000-212558200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:212534000-212570200	Weak transcription	HSMM	muscle
21	chr1:212534400-212570600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:212534600-212560000	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:212535000-212552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:212535000-212561400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:212535200-212560200	Weak transcription	Hela-S3	cervix
26	chr1:212536200-212550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:212536200-212550600	Weak transcription	Brain Angular Gyrus	brain
28	chr1:212536200-212561600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:212536600-212552800	Weak transcription	HMEC	breast
30	chr1:212537800-212551600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:212538000-212571000	Weak transcription	NH-A	brain
32	chr1:212538200-212550600	Weak transcription	Placenta	Placenta
33	chr1:212538200-212559600	Weak transcription	Right Atrium	heart
34	chr1:212538600-212550000	Weak transcription	Colonic Mucosa	Colon
35	chr1:212538600-212550400	Weak transcription	Ovary	ovary
36	chr1:212539600-212550800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:212540200-212550400	Weak transcription	Left Ventricle	heart
38	chr1:212540400-212549600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:212540400-212549800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:212540400-212550400	Weak transcription	Liver	Liver
41	chr1:212540400-212575400	Weak transcription	HUVEC	blood vessel
42	chr1:212540600-212550400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:212540600-212562600	Weak transcription	Osteobl	bone
44	chr1:212540600-212564000	Weak transcription	Stomach Mucosa	stomach
45	chr1:212540800-212549800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:212540800-212550200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:212540800-212550400	Weak transcription	Spleen	Spleen
48	chr1:212540800-212556800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:212541200-212549800	Weak transcription	Adipose Nuclei	Adipose
50	chr1:212541200-212550000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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