Variant report

Variant	rs191412193
Chromosome Location	chr1:113939126-113939127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113938477..113941904-chr1:113943268..113946445,5	MCF-7	breast:
2	chr1:113939073..113939721-chr1:121484722..121485367,2	MCF-7	breast:
3	chr1:113762744..113764884-chr1:113937680..113940514,2	MCF-7	breast:
4	chr1:113933530..113935652-chr1:113937378..113940053,4	K562	blood:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv999873	chr1:113840351-113949453	Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv1010110	chr1:113856612-113969417	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	nsv1014757	chr1:113861524-113969417	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
5	esv3411362	chr1:113938903-113939418	Weak transcription Enhancers Flanking Active TSS Active TSS	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	chr1:113934800-113945200	Weak transcription	Gastric	stomach
2	chr1:113934800-113945200	Weak transcription	Left Ventricle	heart
3	chr1:113935000-113939200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:113935200-113943200	Weak transcription	HUVEC	blood vessel
5	chr1:113935200-113945400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:113935200-113949400	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:113935400-113939200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:113935400-113939600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:113935400-113939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:113935600-113939200	Weak transcription	NH-A	brain
11	chr1:113935600-113939400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:113935600-113939400	Enhancers	Hela-S3	cervix
13	chr1:113935600-113941400	Weak transcription	Fetal Lung	lung
14	chr1:113935600-113941800	Weak transcription	Ovary	ovary
15	chr1:113935600-113949400	Weak transcription	Aorta	Aorta
16	chr1:113936000-113939200	Weak transcription	NHLF	lung
17	chr1:113936000-113945200	Weak transcription	Right Atrium	heart
18	chr1:113936000-113952400	Weak transcription	Fetal Stomach	stomach
19	chr1:113936200-113941400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:113936600-113939200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:113936800-113939400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:113936800-113945200	Weak transcription	Brain Germinal Matrix	brain
23	chr1:113936800-113945200	Weak transcription	Pancreas	Pancrea
24	chr1:113937200-113948200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:113937400-113940000	Weak transcription	Fetal Brain Female	brain
26	chr1:113937400-113940600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:113937400-113941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:113937600-113939400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:113937600-113939600	Enhancers	HepG2	liver
30	chr1:113937600-113940000	Weak transcription	Fetal Brain Male	brain
31	chr1:113937600-113940000	Weak transcription	Fetal Intestine Large	intestine
32	chr1:113937600-113940800	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:113937600-113945600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:113937600-113947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:113937600-113963400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:113937800-113940200	Enhancers	Liver	Liver
37	chr1:113937800-113946400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:113938000-113939200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:113938000-113946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:113938800-113939200	Weak transcription	Stomach Mucosa	stomach
41	chr1:113938800-113940000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:113938800-113940000	Enhancers	NHEK	skin
43	chr1:113938800-113940200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:113938800-113940200	Enhancers	HMEC	breast
45	chr1:113939000-113939200	Flanking Active TSS	A549	lung
46	chr1:113939000-113939800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:113939000-113939800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:113939000-113939800	Enhancers	HSMM	muscle
49	chr1:113939000-113939800	Enhancers	NHDF-Ad	bronchial
50	chr1:113939000-113939800	Enhancers	Osteobl	bone

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