Variant report

Variant	rs1641726
Chromosome Location	chr12:12244361-12244362
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12242492..12245826-chr12:12250715..12252862,3	MCF-7	breast:
2	chr12:12243605..12245833-chr12:12417112..12419056,2	MCF-7	breast:
3	chr12:12237772..12239926-chr12:12242513..12244512,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3741793	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4254157	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6488501	0.93[EUR][1000 genomes]
rs7959374	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs888152	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv557583	chr12:12238317-12253591	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12226600-12245000	Weak transcription	Fetal Brain Male	brain
3	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
4	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
5	chr12:12235400-12244600	Weak transcription	Colonic Mucosa	Colon
6	chr12:12235400-12245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:12235400-12245200	Weak transcription	Pancreas	Pancrea
8	chr12:12235400-12260200	Weak transcription	Gastric	stomach
9	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:12237400-12259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:12238000-12245000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:12239600-12249200	Strong transcription	Fetal Intestine Small	intestine
14	chr12:12240400-12254200	Weak transcription	Stomach Mucosa	stomach
15	chr12:12240600-12245400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:12240600-12245400	Weak transcription	Brain Germinal Matrix	brain
17	chr12:12240600-12256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:12241000-12250200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:12241000-12260600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:12241000-12273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:12241200-12245000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:12241200-12245600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:12241200-12245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:12241200-12256800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:12241200-12261000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:12241400-12252000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:12241400-12272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:12241800-12245000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:12241800-12245400	Weak transcription	Fetal Stomach	stomach
30	chr12:12241800-12247400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:12241800-12260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:12242000-12245200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:12242000-12245800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:12242000-12251000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:12242000-12257000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:12242800-12245200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr12:12242800-12249000	Strong transcription	Fetal Intestine Large	intestine
38	chr12:12243600-12244600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:12243600-12246200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:12243800-12244400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:12243800-12244600	Enhancers	Osteobl	bone
42	chr12:12243800-12245800	Enhancers	NHLF	lung
43	chr12:12243800-12246200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:12244000-12246400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:12244200-12244400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:12244200-12245400	Enhancers	HepG2	liver
47	chr12:12244200-12245800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:12244200-12245800	Enhancers	Fetal Muscle Leg	muscle
49	chr12:12244200-12245800	Enhancers	Lung	lung
50	chr12:12244200-12246200	Enhancers	Fetal Lung	lung

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