Variant report

Variant	rs572976990
Chromosome Location	chr2:54746235-54746236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
2	chr2:54730400-54747600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:54732800-54754800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:54733600-54747000	Weak transcription	Gastric	stomach
5	chr2:54737000-54751400	Weak transcription	HUVEC	blood vessel
6	chr2:54737600-54753800	Weak transcription	Fetal Brain Male	brain
7	chr2:54738200-54746400	Weak transcription	NHLF	lung
8	chr2:54738200-54748200	Weak transcription	Fetal Stomach	stomach
9	chr2:54738200-54751600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:54738400-54751400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:54739400-54746400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:54740400-54746400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:54740400-54746400	Weak transcription	Psoas Muscle	Psoas
14	chr2:54740400-54747000	Weak transcription	Pancreas	Pancrea
15	chr2:54740400-54747800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:54740400-54751600	Weak transcription	Placenta	Placenta
17	chr2:54740400-54770200	Weak transcription	Esophagus	oesophagus
18	chr2:54740600-54746800	Weak transcription	Osteobl	bone
19	chr2:54740600-54747000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:54740600-54749800	Weak transcription	HepG2	liver
21	chr2:54740600-54753400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:54740600-54761800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:54740800-54746400	Weak transcription	Brain Anterior Caudate	brain
24	chr2:54740800-54746400	Weak transcription	HSMM	muscle
25	chr2:54740800-54746800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:54740800-54747000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:54741000-54748000	Weak transcription	Adipose Nuclei	Adipose
28	chr2:54742000-54747000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:54742400-54747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:54742400-54748000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:54742600-54746600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:54742600-54746800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:54742600-54747800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:54742800-54750600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:54743400-54748200	Enhancers	Fetal Heart	heart
36	chr2:54743600-54751600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:54744000-54746600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:54744000-54747200	Weak transcription	HSMMtube	muscle
39	chr2:54744000-54777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:54744200-54746400	Enhancers	Fetal Lung	lung
41	chr2:54744200-54747000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:54744400-54748000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:54744400-54751400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:54744400-54753400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:54744400-54753400	Weak transcription	Ovary	ovary
46	chr2:54744400-54769600	Weak transcription	Spleen	Spleen
47	chr2:54744600-54746400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:54744600-54746400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:54744600-54746600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:54744600-54746600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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