Variant report

Variant	rs12130368
Chromosome Location	chr1:151622120-151622121
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	chr1:151616584..151619444-chr1:151621230..151623603,2	MCF-7	breast:
3	1:151171193-151178589..1:151618750-151636526	Hela-S3	cervix:
4	1:151592347-151603110..1:151618750-151636526	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000143398	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000206635	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1196360	0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs12145098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16833391	0.88[CEU][hapmap]
rs1781416	0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs2280474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3748606	0.88[CEU][hapmap]
rs3790508	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151586400-151622200	Weak transcription	Fetal Thymus	thymus
2	chr1:151586400-151626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:151587600-151640600	Weak transcription	Fetal Brain Male	brain
4	chr1:151588000-151626600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:151588200-151665200	Weak transcription	Aorta	Aorta
6	chr1:151591000-151630800	Weak transcription	Fetal Kidney	kidney
7	chr1:151591200-151675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:151592000-151622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:151592600-151633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:151592800-151630600	Weak transcription	Hela-S3	cervix
11	chr1:151594000-151652800	Weak transcription	Right Ventricle	heart
12	chr1:151601400-151629800	Weak transcription	Thymus	Thymus
13	chr1:151603000-151663200	Weak transcription	Colonic Mucosa	Colon
14	chr1:151606800-151630800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:151608200-151630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:151610200-151633800	Weak transcription	HUVEC	blood vessel
17	chr1:151610400-151626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:151610600-151625800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:151610600-151626000	Weak transcription	Spleen	Spleen
20	chr1:151610600-151626600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:151610600-151630600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:151610600-151631000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:151610600-151652200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:151610600-151665000	Weak transcription	Lung	lung
25	chr1:151610800-151631000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:151611000-151625800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:151611400-151630400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:151611400-151630400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:151611400-151631000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:151611600-151626600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:151611600-151628000	Weak transcription	Brain Substantia Nigra	brain
32	chr1:151611600-151633000	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:151611600-151634200	Weak transcription	Psoas Muscle	Psoas
34	chr1:151611600-151637600	Weak transcription	Fetal Heart	heart
35	chr1:151611600-151639800	Weak transcription	K562	blood
36	chr1:151611600-151640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:151611600-151643800	Weak transcription	Pancreas	Pancrea
38	chr1:151611600-151668200	Weak transcription	Gastric	stomach
39	chr1:151611800-151626600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:151611800-151630400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:151612000-151625800	Weak transcription	Adipose Nuclei	Adipose
42	chr1:151612000-151626600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:151612000-151627200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:151612200-151630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:151612400-151634600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:151612600-151627600	Weak transcription	Liver	Liver
47	chr1:151612600-151627600	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:151612800-151630400	Weak transcription	HSMMtube	muscle
49	chr1:151612800-151630800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:151612800-151633800	Weak transcription	HSMM	muscle

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