Variant report

Variant	rs116320988
Chromosome Location	chr2:187437550-187437551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187370870..187374778-chr2:187436583..187438876,3	MCF-7	breast:
2	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
3	chr2:187411689..187413817-chr2:187434858..187437606,2	MCF-7	breast:
4	chr2:187437479..187442784-chr2:187443924..187447436,6	MCF-7	breast:
5	chr2:187432930..187434820-chr2:187437011..187439461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2756507	chr2:187416494-187470494	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv2753217	chr2:187424494-187470494	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	esv1007920	chr2:187427312-187437824	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3332303	chr2:187436357-187438355	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv2629501	chr2:187436584-187438062	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv10208	chr2:187436719-187443357	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3322829	chr2:187436857-187437805	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187426600-187441200	Weak transcription	Aorta	Aorta
2	chr2:187434800-187438200	Enhancers	NHEK	skin
3	chr2:187435200-187439800	Weak transcription	HSMMtube	muscle
4	chr2:187435400-187438200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:187435400-187439400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:187435400-187439600	Weak transcription	HSMM	muscle
7	chr2:187435600-187437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:187435600-187439800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:187435600-187441400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:187435600-187453800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:187435800-187437600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:187435800-187439200	Weak transcription	NH-A	brain
13	chr2:187435800-187439400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:187435800-187439400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:187435800-187439400	Weak transcription	HUVEC	blood vessel
16	chr2:187435800-187439600	Weak transcription	K562	blood
17	chr2:187435800-187439800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:187435800-187439800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:187435800-187440400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:187435800-187440600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:187436000-187439400	Weak transcription	Osteobl	bone
22	chr2:187436000-187439600	Weak transcription	HepG2	liver
23	chr2:187436000-187439800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:187436000-187439800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:187436200-187437600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:187436400-187439800	Weak transcription	Hela-S3	cervix
27	chr2:187436800-187438000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:187436800-187438200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:187437200-187438200	Enhancers	Stomach Mucosa	stomach
30	chr2:187437400-187437600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:187437400-187437800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:187437400-187438200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:187437400-187438200	Flanking Active TSS	A549	lung
34	chr2:187437400-187438200	Enhancers	HMEC	breast

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