Variant report

Variant	rs1196462
Chromosome Location	chr1:151627604-151627605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	1:151402394-151411623..1:151618750-151636526	GM12878	blood:
2	1:151171193-151178589..1:151618750-151636526	Hela-S3	cervix:
3	chr1:151625892..151628337-chr1:151629163..151630750,2	MCF-7	breast:
4	chr1:151626801..151630582-chr1:151633490..151635442,3	MCF-7	breast:
5	1:151592347-151603110..1:151618750-151636526	Hela-S3	cervix:
6	chr1:151625459..151628477-chr1:151811349..151814546,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225556	Chromatin interaction
ENSG00000201134	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143376	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11808761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1196466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196468	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196469	0.81[YRI][hapmap]
rs12122920	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12128050	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12723676	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12758387	0.80[CEU][hapmap]
rs1308150	1.00[YRI][hapmap]
rs35086333	0.87[ASN][1000 genomes]
rs41263702	0.87[EUR][1000 genomes]
rs4845339	0.80[CEU][hapmap]
rs61818467	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587615	0.84[CEU][hapmap];0.83[CHB][hapmap]
rs6587617	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs6696250	0.84[CEU][hapmap];0.83[CHB][hapmap]
rs878775	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs939592	0.84[CEU][hapmap];0.93[YRI][hapmap];0.81[EUR][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	nsv2843	chr1:151600069-151644709	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 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	chr1:151587600-151640600	Weak transcription	Fetal Brain Male	brain
2	chr1:151588200-151665200	Weak transcription	Aorta	Aorta
3	chr1:151591000-151630800	Weak transcription	Fetal Kidney	kidney
4	chr1:151591200-151675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:151592600-151633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:151592800-151630600	Weak transcription	Hela-S3	cervix
7	chr1:151594000-151652800	Weak transcription	Right Ventricle	heart
8	chr1:151601400-151629800	Weak transcription	Thymus	Thymus
9	chr1:151603000-151663200	Weak transcription	Colonic Mucosa	Colon
10	chr1:151606800-151630800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:151608200-151630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:151610200-151633800	Weak transcription	HUVEC	blood vessel
13	chr1:151610600-151630600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:151610600-151631000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:151610600-151652200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:151610600-151665000	Weak transcription	Lung	lung
17	chr1:151610800-151631000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:151611400-151630400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:151611400-151630400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:151611400-151631000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:151611600-151628000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:151611600-151633000	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:151611600-151634200	Weak transcription	Psoas Muscle	Psoas
24	chr1:151611600-151637600	Weak transcription	Fetal Heart	heart
25	chr1:151611600-151639800	Weak transcription	K562	blood
26	chr1:151611600-151640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:151611600-151643800	Weak transcription	Pancreas	Pancrea
28	chr1:151611600-151668200	Weak transcription	Gastric	stomach
29	chr1:151611800-151630400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:151612200-151630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:151612400-151634600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:151612800-151630400	Weak transcription	HSMMtube	muscle
33	chr1:151612800-151630800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:151612800-151633800	Weak transcription	HSMM	muscle
35	chr1:151612800-151652400	Weak transcription	HMEC	breast
36	chr1:151613800-151630600	Weak transcription	NH-A	brain
37	chr1:151614000-151629600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:151614000-151630600	Weak transcription	Brain Angular Gyrus	brain
39	chr1:151614000-151630600	Weak transcription	NHEK	skin
40	chr1:151618000-151642600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:151618000-151667600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:151619400-151630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:151620800-151631800	Weak transcription	Left Ventricle	heart
44	chr1:151621400-151632000	Weak transcription	Fetal Lung	lung
45	chr1:151621600-151630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:151622200-151627800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:151622200-151629400	Weak transcription	HepG2	liver
48	chr1:151622400-151630600	Weak transcription	Fetal Thymus	thymus
49	chr1:151622800-151643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:151623000-151630600	Weak transcription	H1 Cell Line	embryonic stem cell

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