Variant report

Variant	rs1625394
Chromosome Location	chr12:66721541-66721542
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	chr12:66707226..66709433-chr12:66720271..66722244,2	MCF-7	breast:
2	chr12:66720021..66726228-chr12:66728171..66733015,6	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11176145	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1168308	0.84[CEU][hapmap]
rs1168309	0.81[CEU][hapmap]
rs1168310	0.84[CEU][hapmap]
rs1168311	0.84[CEU][hapmap]
rs1168327	0.85[CEU][hapmap]
rs1168328	0.84[CEU][hapmap]
rs1168329	0.84[CEU][hapmap]
rs1177555	0.85[CEU][hapmap]
rs1183272	0.85[CEU][hapmap]
rs1185244	0.84[CEU][hapmap]
rs1691799	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1795527	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1625394	HELB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66696800-66723600	Weak transcription	HSMM	muscle
2	chr12:66696800-66734200	Weak transcription	HSMMtube	muscle
3	chr12:66697000-66725000	Weak transcription	Ovary	ovary
4	chr12:66697200-66725600	Weak transcription	Fetal Heart	heart
5	chr12:66697200-66733800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:66697200-66734800	Weak transcription	Esophagus	oesophagus
7	chr12:66697200-66735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:66697200-66742200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:66697400-66724800	Weak transcription	Pancreas	Pancrea
10	chr12:66697400-66732200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:66697400-66732400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:66697400-66735000	Weak transcription	Right Ventricle	heart
13	chr12:66697800-66725000	Weak transcription	Colonic Mucosa	Colon
14	chr12:66698200-66725200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:66698200-66735000	Weak transcription	Fetal Brain Female	brain
16	chr12:66698400-66732400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:66698400-66734800	Weak transcription	HepG2	liver
18	chr12:66699000-66735000	Weak transcription	K562	blood
19	chr12:66702400-66724800	Weak transcription	Aorta	Aorta
20	chr12:66702600-66734800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:66704200-66725600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:66704200-66733600	Weak transcription	A549	lung
23	chr12:66704200-66735000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:66704400-66724800	Weak transcription	Lung	lung
25	chr12:66704400-66732200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:66704400-66733600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:66704400-66741800	Weak transcription	Hela-S3	cervix
28	chr12:66704600-66721800	Weak transcription	Fetal Intestine Small	intestine
29	chr12:66704600-66725000	Weak transcription	Spleen	Spleen
30	chr12:66704600-66725200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:66704800-66724600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:66704800-66725000	Weak transcription	Placenta	Placenta
33	chr12:66705000-66729000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:66705200-66724800	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:66705200-66724800	Weak transcription	Gastric	stomach
36	chr12:66705200-66730200	Weak transcription	Left Ventricle	heart
37	chr12:66705200-66731800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:66705400-66725200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:66705800-66724800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:66705800-66732400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:66705800-66732600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:66705800-66734800	Weak transcription	Fetal Stomach	stomach
43	chr12:66706200-66732600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:66706400-66723600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:66708200-66724800	Weak transcription	Small Intestine	intestine
46	chr12:66708200-66732400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:66709400-66727800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:66710200-66733400	Weak transcription	Fetal Lung	lung
49	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
50	chr12:66713600-66727600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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