Variant report

Variant	rs74062447
Chromosome Location	chr12:11294960-11294961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs74062410	1.00[AMR][1000 genomes]
rs74062417	1.00[AMR][1000 genomes]
rs74062419	1.00[AMR][1000 genomes]
rs74062421	1.00[AMR][1000 genomes]
rs74062424	1.00[AMR][1000 genomes]
rs74062427	1.00[AMR][1000 genomes]
rs74062448	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv1835477	chr12:11174302-11298269	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv898783	chr12:11185236-11338781	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv898784	chr12:11188140-11341521	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1042134	chr12:11220712-11328131	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1043344	chr12:11220827-11308162	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11260000-11297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:11262200-11296400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:11262200-11296800	Weak transcription	Thymus	Thymus
4	chr12:11262200-11314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:11262800-11318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:11265400-11297200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:11266400-11296800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:11268600-11312600	Weak transcription	Hela-S3	cervix
9	chr12:11270400-11323200	Weak transcription	Fetal Kidney	kidney
10	chr12:11273400-11297200	Weak transcription	HUVEC	blood vessel
11	chr12:11273800-11321800	Weak transcription	Osteobl	bone
12	chr12:11276400-11295800	Weak transcription	Fetal Intestine Large	intestine
13	chr12:11276800-11303600	Weak transcription	HSMM	muscle
14	chr12:11276800-11311800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:11277000-11296000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:11277000-11297600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:11278600-11297000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:11279400-11311800	Weak transcription	HepG2	liver
19	chr12:11280000-11295600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:11280200-11296400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:11281400-11296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:11282000-11297000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:11282000-11303600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:11282200-11303400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:11282400-11295400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:11282400-11318200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:11283000-11303600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:11283800-11297200	Weak transcription	Primary T cells from cord blood	blood
29	chr12:11283800-11297200	Weak transcription	Aorta	Aorta
30	chr12:11284200-11296000	Weak transcription	Primary B cells from cord blood	blood
31	chr12:11284600-11297200	Weak transcription	Dnd41	blood
32	chr12:11286600-11296400	Weak transcription	Psoas Muscle	Psoas
33	chr12:11286600-11318600	Weak transcription	Ovary	ovary
34	chr12:11286800-11303600	Weak transcription	Left Ventricle	heart
35	chr12:11287200-11303400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:11287400-11296400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:11287600-11312600	Weak transcription	NHDF-Ad	bronchial
38	chr12:11288200-11295200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:11289000-11312000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:11289400-11303600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:11291600-11296400	Weak transcription	Fetal Intestine Small	intestine
42	chr12:11291600-11321800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:11291800-11295000	Weak transcription	Pancreas	Pancrea
44	chr12:11292000-11298000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:11292200-11297000	Weak transcription	Liver	Liver
46	chr12:11292400-11296000	Weak transcription	Fetal Lung	lung
47	chr12:11292400-11312600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:11293000-11295800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr12:11294200-11296600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:11294200-11296800	Weak transcription	Lung	lung

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