Variant report

Variant	rs532761925
Chromosome Location	chr2:231215671-231215672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231211608..231214034-chr2:231214766..231217419,2	K562	blood:
2	chr2:231211208..231214034-chr2:231215264..231217419,2	K562	blood:

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	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3417154	chr2:231159789-231258938	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3348338	chr2:231160124-231259498	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875945	chr2:231172642-231267925	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv869708	chr2:231173700-231267616	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1004183	chr2:231174420-231258603	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3486129	chr2:231175581-231265831	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3486131	chr2:231175581-231265831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1013738	chr2:231176856-231258603	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv584667	chr2:231177822-231258450	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv460119	chr2:231178876-231258450	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv584668	chr2:231178876-231258450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1001929	chr2:231179884-231258603	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1006206	chr2:231179884-231268938	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv584669	chr2:231183321-231258150	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv584670	chr2:231183786-231241276	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3374323	chr2:231186424-231244177	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv819175	chr2:231214969-231222711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231192800-231223800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:231193600-231224000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:231194000-231222600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:231200600-231224000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:231201800-231223200	Weak transcription	HSMM	muscle
6	chr2:231211000-231222400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:231211200-231223200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:231211400-231220200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:231212200-231216000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:231212400-231216200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:231212400-231220800	Weak transcription	Osteobl	bone
12	chr2:231212400-231222400	Weak transcription	Ovary	ovary
13	chr2:231212400-231224000	Weak transcription	Thymus	Thymus
14	chr2:231212400-231225200	Weak transcription	Lung	lung
15	chr2:231212600-231222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:231212600-231222600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:231212600-231222600	Weak transcription	Placenta	Placenta
18	chr2:231212600-231223200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:231212600-231224600	Weak transcription	Esophagus	oesophagus
20	chr2:231212600-231225200	Weak transcription	Fetal Stomach	stomach
21	chr2:231212600-231226000	Weak transcription	Pancreas	Pancrea
22	chr2:231212800-231216400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:231212800-231219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:231212800-231222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:231212800-231222600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:231212800-231223000	Weak transcription	Fetal Thymus	thymus
27	chr2:231212800-231223200	Weak transcription	Left Ventricle	heart
28	chr2:231212800-231223800	Weak transcription	Aorta	Aorta
29	chr2:231212800-231224800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:231212800-231225600	Weak transcription	Spleen	Spleen
31	chr2:231212800-231235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:231212800-231236600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:231212800-231253600	Weak transcription	Gastric	stomach
34	chr2:231212800-231253600	Weak transcription	HMEC	breast
35	chr2:231212800-231259200	Weak transcription	Small Intestine	intestine
36	chr2:231212800-231262400	Weak transcription	K562	blood
37	chr2:231213000-231215800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:231213000-231220200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:231213000-231222400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:231213000-231222400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:231213000-231222400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:231213000-231222600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:231213000-231222800	Weak transcription	NH-A	brain
44	chr2:231213000-231223600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:231213000-231237600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:231213200-231216200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:231213200-231216400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:231213200-231220200	Weak transcription	Liver	Liver
49	chr2:231213200-231222000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:231213200-231222200	Weak transcription	Primary B cells from cord blood	blood

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