Variant report

Variant	rs537688309
Chromosome Location	chr2:188396273-188396274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188375111..188377616-chr2:188395627..188398222,2	K562	blood:
2	chr2:188393262..188398014-chr2:188414587..188419751,6	K562	blood:
3	chr2:188382536..188387002-chr2:188394148..188396925,4	K562	blood:
4	chr2:188390916..188392593-chr2:188395484..188396999,2	K562	blood:
5	chr2:188395046..188397968-chr2:188414786..188417959,4	K562	blood:
6	chr2:188395123..188398204-chr2:188399307..188403080,4	K562	blood:

Variant related genes	Relation type
ENSG00000003436	Chromatin interaction
ENSG00000224063	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
3	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
4	chr2:188385200-188397000	Weak transcription	Pancreas	Pancrea
5	chr2:188385200-188397200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:188385200-188397200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:188385200-188406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:188385400-188396400	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:188385400-188397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:188385400-188397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:188385400-188397000	Weak transcription	Fetal Stomach	stomach
12	chr2:188385400-188397200	Weak transcription	Fetal Intestine Small	intestine
13	chr2:188385400-188397600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:188385800-188397000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:188387000-188397000	Weak transcription	Lung	lung
16	chr2:188387000-188406000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:188387200-188397000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:188387200-188398600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:188387200-188406000	Weak transcription	HSMMtube	muscle
20	chr2:188387600-188397000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:188390000-188398400	Genic enhancers	HepG2	liver
22	chr2:188391000-188398000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:188391800-188405800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:188392200-188402000	Weak transcription	Fetal Lung	lung
25	chr2:188392200-188413200	Weak transcription	Psoas Muscle	Psoas
26	chr2:188392400-188397000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:188392400-188397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:188392400-188397200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:188392400-188397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:188392400-188409200	Weak transcription	Ovary	ovary
31	chr2:188392600-188397200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:188393000-188404800	Weak transcription	NH-A	brain
33	chr2:188393000-188406200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:188393200-188397200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:188393400-188397400	Enhancers	Hela-S3	cervix
36	chr2:188394400-188397000	Enhancers	HUVEC	blood vessel
37	chr2:188394600-188397000	Weak transcription	Placenta	Placenta
38	chr2:188394800-188396800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:188394800-188397000	Weak transcription	HSMM	muscle
40	chr2:188394800-188405800	Weak transcription	NHLF	lung
41	chr2:188394800-188408400	Weak transcription	K562	blood
42	chr2:188395000-188397000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:188395200-188399400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:188395400-188402800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:188395400-188405800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:188395600-188397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:188395600-188404200	Weak transcription	NHDF-Ad	bronchial
48	chr2:188396000-188396800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:188396000-188396800	Weak transcription	Liver	Liver
50	chr2:188396000-188397200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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