Variant report

Variant	rs787172
Chromosome Location	chr2:144697113-144697114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1366678	1.00[ASW][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.87[AFR][1000 genomes]
rs35304150	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv875260	chr2:144675354-144703126	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv583247	chr2:144682018-144697113	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144694800-144697600	Enhancers	Fetal Brain Male	brain
2	chr2:144695400-144697400	Weak transcription	HSMMtube	muscle
3	chr2:144695400-144698000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:144695400-144700200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:144695400-144702800	Weak transcription	Lung	lung
6	chr2:144695400-144704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:144695400-144707600	Weak transcription	Pancreas	Pancrea
8	chr2:144695400-144714200	Weak transcription	Gastric	stomach
9	chr2:144695600-144697200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:144695600-144697200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:144695600-144697200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:144695600-144697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:144695600-144697800	Enhancers	Brain Germinal Matrix	brain
14	chr2:144695600-144698000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:144695600-144698200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:144695600-144704000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:144695600-144708800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:144695800-144697400	Weak transcription	Aorta	Aorta
19	chr2:144695800-144697600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:144695800-144698200	Weak transcription	Spleen	Spleen
21	chr2:144696000-144697200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:144696000-144697200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:144696000-144697400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:144696000-144697400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:144696000-144697400	Enhancers	Adipose Nuclei	Adipose
26	chr2:144696000-144697400	Weak transcription	Brain Anterior Caudate	brain
27	chr2:144696000-144697400	Weak transcription	Fetal Brain Female	brain
28	chr2:144696000-144697600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:144696000-144697600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:144696000-144698200	Enhancers	NHLF	lung
31	chr2:144696000-144698400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:144696000-144698800	Enhancers	Fetal Kidney	kidney
33	chr2:144696000-144698800	Enhancers	Fetal Stomach	stomach
34	chr2:144696000-144699800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:144696000-144704000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:144696000-144704000	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:144696000-144713200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:144696200-144697200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:144696200-144697200	Weak transcription	Right Atrium	heart
40	chr2:144696200-144697200	Enhancers	NHDF-Ad	bronchial
41	chr2:144696200-144709800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:144696600-144697200	Weak transcription	Ovary	ovary
43	chr2:144696600-144697400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:144696600-144697400	Enhancers	Fetal Lung	lung
45	chr2:144696600-144698000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:144696600-144706400	Weak transcription	HSMM	muscle
47	chr2:144696600-144712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:144696600-144717800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:144696800-144697200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:144696800-144697800	Enhancers	HUES48 Cell Line	embryonic stem cell

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