Variant report

Variant	rs12142294
Chromosome Location	chr1:61590617-61590618
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	chr1:61541317..61544049-chr1:61589053..61591943,2	K562	blood:
2	chr1:61516816..61519561-chr1:61589815..61591722,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INADL-2	chr1:61590158-61592482	ENSG00000248141
2	lnc-INADL-2	chr1:61590405-61590874	ENSG00000270742.1

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10789092	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10889207	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207692	0.81[CHD][hapmap]
rs11207694	0.85[EUR][1000 genomes]
rs11207695	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207702	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs12021605	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs12033718	0.86[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs12126498	1.00[CEU][hapmap]
rs12126737	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130085	0.81[CHD][hapmap]
rs12403502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12409737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412712	0.86[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs17121702	0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs17121705	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs1832184	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs1930314	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620575	0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4915729	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4915730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4915731	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs964091	0.91[TSI][hapmap];0.83[EUR][1000 genomes]

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61581400-61592000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:61581400-61604600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:61582400-61604800	Weak transcription	Hela-S3	cervix
4	chr1:61584400-61591000	Enhancers	Fetal Lung	lung
5	chr1:61584400-61591600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:61584600-61597800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:61585000-61597400	Weak transcription	Ovary	ovary
8	chr1:61586200-61590800	Enhancers	Brain Germinal Matrix	brain
9	chr1:61586200-61597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:61586400-61597000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:61586600-61598200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:61586800-61590800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:61586800-61591200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:61586800-61592200	Enhancers	Brain Substantia Nigra	brain
15	chr1:61586800-61597400	Weak transcription	NHEK	skin
16	chr1:61586800-61597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:61587000-61591600	Enhancers	Fetal Brain Male	brain
18	chr1:61587000-61597600	Weak transcription	NHLF	lung
19	chr1:61587000-61598400	Weak transcription	NHDF-Ad	bronchial
20	chr1:61587000-61606800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:61587400-61591000	Enhancers	Brain Angular Gyrus	brain
22	chr1:61587400-61591800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:61587600-61593800	Weak transcription	Fetal Stomach	stomach
24	chr1:61588000-61591000	Enhancers	Fetal Brain Female	brain
25	chr1:61588200-61597400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:61588400-61596200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:61588600-61591000	Weak transcription	Adipose Nuclei	Adipose
28	chr1:61589000-61591000	Enhancers	Liver	Liver
29	chr1:61589200-61592000	Enhancers	Colon Smooth Muscle	Colon
30	chr1:61589600-61590800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr1:61589600-61591000	Enhancers	Brain Hippocampus Middle	brain
32	chr1:61589600-61591800	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:61589800-61590800	Enhancers	Gastric	stomach
34	chr1:61589800-61590800	Enhancers	Pancreas	Pancrea
35	chr1:61589800-61590800	Enhancers	Right Atrium	heart
36	chr1:61589800-61591200	Enhancers	Left Ventricle	heart
37	chr1:61589800-61591800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:61590000-61597600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:61590200-61591000	Enhancers	Fetal Heart	heart
40	chr1:61590200-61591400	Enhancers	K562	blood
41	chr1:61590200-61597000	Weak transcription	HepG2	liver
42	chr1:61590400-61591000	Enhancers	Aorta	Aorta
43	chr1:61590400-61591800	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:61590400-61592000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:61590600-61590800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:61590600-61590800	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:61590600-61591000	Enhancers	Brain Anterior Caudate	brain
48	chr1:61590600-61591000	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:61590600-61591200	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr1:61590600-61591200	Active TSS	Psoas Muscle	Psoas

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