Variant report

Variant	rs74081707
Chromosome Location	chr12:42862431-42862432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42856522..42859149-chr12:42861270..42865700,4	K562	blood:
2	chr12:42858889..42861856-chr12:42862365..42864970,2	MCF-7	breast:
3	chr12:42851425..42853056-chr12:42860476..42863154,2	MCF-7	breast:
4	chr12:42763652..42765251-chr12:42861680..42863828,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56655832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61926595	0.83[AFR][1000 genomes]
rs74078017	0.86[AFR][1000 genomes]
rs74078043	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977710	0.86[AFR][1000 genomes];1.00[AMR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
3	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
4	chr12:42837200-42863200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:42844800-42862600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:42849400-42864800	Strong transcription	Fetal Stomach	stomach
7	chr12:42850000-42866400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:42850200-42862800	Strong transcription	NH-A	brain
9	chr12:42850200-42865000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:42850200-42865000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:42850200-42865800	Strong transcription	Osteobl	bone
12	chr12:42851800-42863000	Strong transcription	Fetal Muscle Leg	muscle
13	chr12:42852800-42862800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:42853400-42869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:42854000-42863600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:42854000-42865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:42854000-42868600	Weak transcription	Right Ventricle	heart
18	chr12:42854200-42865200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:42854200-42867400	Weak transcription	NHLF	lung
20	chr12:42854400-42864800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:42854400-42865200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:42854600-42864800	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr12:42855200-42864000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:42855400-42864000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:42855400-42865200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:42856200-42865800	Strong transcription	HMEC	breast
27	chr12:42856400-42863400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:42856400-42864200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:42856800-42864000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:42857000-42863000	Weak transcription	Right Atrium	heart
31	chr12:42857800-42863400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:42857800-42863800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:42859000-42863200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:42859200-42863000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:42859200-42864800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:42859200-42865200	Weak transcription	Fetal Intestine Small	intestine
37	chr12:42859800-42862600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:42859800-42863000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:42859800-42863200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:42860200-42862800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:42860200-42863200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:42860200-42866800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:42860200-42868800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:42860200-42870400	Weak transcription	Pancreas	Pancrea
45	chr12:42860200-42876200	Weak transcription	Gastric	stomach
46	chr12:42860800-42862800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:42860800-42863200	Weak transcription	HSMM	muscle
48	chr12:42860800-42863800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:42860800-42864600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:42861400-42863400	Strong transcription	Muscle Satellite Cultured Cells	--

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