Variant report

Variant	rs199609430
Chromosome Location	chr2:20364978-20364979
allele	-/CA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20357663..20359639-chr2:20362711..20364978,2	K562	blood:
2	chr2:20364675..20367244-chr2:20367416..20369596,2	K562	blood:
3	chr2:20357867..20361312-chr2:20362237..20365220,4	MCF-7	breast:
4	chr2:20364500..20366851-chr2:20367517..20369898,2	MCF-7	breast:
5	chr2:20364027..20368295-chr2:20377113..20381748,5	MCF-7	breast:
6	chr2:20364604..20368497-chr2:20376297..20379611,4	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1004083	chr2:20336237-20388138	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1004947	chr2:20342264-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1005923	chr2:20344028-20369781	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv997958	chr2:20349343-20386339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1005524	chr2:20349343-20388138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv999131	chr2:20350751-20377607	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv998067	chr2:20350751-20386339	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1001531	chr2:20350751-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1007926	chr2:20350751-20393557	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv3446690	chr2:20362971-20367169	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3451715	chr2:20363271-20367769	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3364595	chr2:20363371-20367169	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3353437	chr2:20364568-20365043	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20354200-20366800	Weak transcription	Placenta	Placenta
2	chr2:20357600-20365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20357800-20366600	Weak transcription	Stomach Mucosa	stomach
4	chr2:20362400-20371400	Weak transcription	Right Atrium	heart
5	chr2:20363800-20374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:20364000-20366000	Enhancers	Gastric	stomach
7	chr2:20364000-20367800	Enhancers	A549	lung
8	chr2:20364000-20368000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:20364200-20365800	Enhancers	Lung	lung
10	chr2:20364200-20366000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:20364200-20366400	Enhancers	HepG2	liver
12	chr2:20364200-20368000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:20364200-20369200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:20364400-20365000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:20364400-20365000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:20364400-20365200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr2:20364400-20365400	Bivalent Enhancer	K562	blood
18	chr2:20364400-20365800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:20364400-20365800	Genic enhancers	Pancreas	Pancrea
20	chr2:20364400-20366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:20364400-20366000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:20364400-20366000	ZNF genes & repeats	Fetal Kidney	kidney
23	chr2:20364400-20367400	Enhancers	GM12878-XiMat	blood
24	chr2:20364400-20367400	Enhancers	NHDF-Ad	bronchial
25	chr2:20364400-20372000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:20364600-20365000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr2:20364600-20365000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:20364600-20365800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:20364600-20365800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:20364600-20365800	Active TSS	Fetal Lung	lung
31	chr2:20364600-20366000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:20364600-20367600	Enhancers	HMEC	breast
33	chr2:20364800-20365000	Flanking Active TSS	Spleen	Spleen
34	chr2:20364800-20365600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:20364800-20366000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:20364800-20366000	Weak transcription	Esophagus	oesophagus
37	chr2:20364800-20366400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:20364800-20372200	Enhancers	NHEK	skin

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