Variant report

Variant	rs74061956
Chromosome Location	chr12:4653507-4653508
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34810644	1.00[AMR][1000 genomes]
rs59185867	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61064582	1.00[AMR][1000 genomes]
rs7307556	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059626	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061920	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74061922	0.85[AMR][1000 genomes]
rs74061948	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74061951	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7955496	1.00[AMR][1000 genomes]
rs7958840	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968517	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4648400-4670200	Weak transcription	Left Ventricle	heart
2	chr12:4648400-4671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:4648400-4671400	Weak transcription	Esophagus	oesophagus
4	chr12:4648600-4671200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:4648800-4654000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:4648800-4655000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:4648800-4659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:4648800-4664800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:4648800-4669600	Weak transcription	Fetal Brain Male	brain
10	chr12:4648800-4670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:4648800-4671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:4649000-4657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:4649000-4664600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:4649000-4666000	Weak transcription	Placenta	Placenta
15	chr12:4649000-4671000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:4649000-4671000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:4649000-4671000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:4649000-4671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:4649200-4657400	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:4649200-4657600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:4649200-4657600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:4649200-4657800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:4649200-4663200	Weak transcription	Fetal Brain Female	brain
24	chr12:4649200-4670800	Weak transcription	Fetal Intestine Small	intestine
25	chr12:4649400-4657000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:4649400-4657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:4649400-4657400	Weak transcription	Thymus	Thymus
28	chr12:4649400-4658200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:4649400-4661600	Weak transcription	Fetal Lung	lung
30	chr12:4649400-4671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:4649400-4671000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:4649400-4671000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:4649600-4657600	Weak transcription	Fetal Heart	heart
34	chr12:4649600-4659000	Weak transcription	Primary T cells from cord blood	blood
35	chr12:4649600-4666200	Weak transcription	NHLF	lung
36	chr12:4649600-4671000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:4649600-4671000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:4649600-4671000	Weak transcription	Fetal Kidney	kidney
39	chr12:4649600-4671200	Weak transcription	NHEK	skin
40	chr12:4649800-4657600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:4649800-4658200	Weak transcription	Brain Germinal Matrix	brain
42	chr12:4649800-4659600	Weak transcription	Fetal Stomach	stomach
43	chr12:4650200-4668600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:4650200-4670600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:4650400-4655000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:4650400-4658000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:4650400-4670000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:4650400-4670200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:4651000-4656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:4651000-4658200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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