Variant report

Variant	rs12117388
Chromosome Location	chr1:63119256-63119257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63114096..63117270-chr1:63118025..63120771,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1072865	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11207993	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11208003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092541	0.82[EUR][1000 genomes]
rs12116657	0.80[EUR][1000 genomes]
rs41290146	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61775956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs912540	0.85[EUR][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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63082200-63121000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:63082800-63132600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:63084800-63121000	Weak transcription	Small Intestine	intestine
4	chr1:63088000-63134600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:63096200-63121000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:63096800-63129400	Weak transcription	Esophagus	oesophagus
7	chr1:63098000-63121400	Weak transcription	HUVEC	blood vessel
8	chr1:63099600-63122800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:63099600-63137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:63107200-63120400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:63107200-63121000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:63107200-63122600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:63107200-63122600	Weak transcription	Gastric	stomach
14	chr1:63107400-63119400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:63107400-63119800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:63107400-63120800	Weak transcription	Thymus	Thymus
17	chr1:63107400-63121400	Weak transcription	HSMMtube	muscle
18	chr1:63107400-63122400	Weak transcription	Left Ventricle	heart
19	chr1:63107400-63122800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:63107400-63122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:63107400-63122800	Weak transcription	Lung	lung
22	chr1:63107400-63124800	Weak transcription	Right Ventricle	heart
23	chr1:63107400-63129600	Weak transcription	NHLF	lung
24	chr1:63107400-63132200	Weak transcription	Brain Germinal Matrix	brain
25	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
26	chr1:63107600-63147800	Weak transcription	NHEK	skin
27	chr1:63108200-63120200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
29	chr1:63109000-63124200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:63109000-63130600	Weak transcription	Fetal Intestine Small	intestine
31	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
34	chr1:63109400-63120400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:63109400-63121800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:63109600-63121200	Weak transcription	Psoas Muscle	Psoas
37	chr1:63110200-63126200	Weak transcription	NH-A	brain
38	chr1:63110200-63140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:63110600-63120800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:63111000-63119400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:63111000-63122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:63111000-63124200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:63111400-63129800	Weak transcription	Primary T cells from cord blood	blood
44	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
45	chr1:63111800-63122600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:63112200-63119800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:63112400-63137600	Weak transcription	Fetal Intestine Large	intestine
48	chr1:63112400-63140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:63112400-63142400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:63112400-63142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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