Variant report

Variant	rs4349337
Chromosome Location	chr2:231183543-231183544
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231176097..231178034-chr2:231181270..231184101,2	MCF-7	breast:
2	chr2:231182687..231184963-chr2:231663131..231665649,2	K562	blood:
3	chr2:231177190..231178996-chr2:231181299..231183714,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer 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	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
4	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
5	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
6	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
7	nsv875944	chr2:231162998-231189047	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231175000-231183800	Weak transcription	HMEC	breast
2	chr2:231180800-231183600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:231182000-231184400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr2:231182200-231183800	Weak transcription	Right Atrium	heart
5	chr2:231182200-231185200	Enhancers	Fetal Thymus	thymus
6	chr2:231182400-231183600	Weak transcription	Spleen	Spleen
7	chr2:231182400-231184000	Weak transcription	Lung	lung
8	chr2:231182400-231184600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:231182400-231184800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:231182400-231184800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:231182400-231185200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:231182600-231183600	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:231182600-231183600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:231182600-231184600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr2:231182600-231184800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr2:231182600-231185800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:231182800-231184800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:231183000-231183600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:231183000-231184000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:231183000-231184000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:231183000-231184200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:231183000-231184200	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:231183000-231184400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:231183000-231184400	Enhancers	Right Ventricle	heart
25	chr2:231183000-231184800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:231183000-231184800	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:231183000-231185000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:231183200-231183600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:231183200-231184000	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr2:231183200-231184000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:231183200-231184000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr2:231183200-231184800	Flanking Active TSS	Dnd41	blood
33	chr2:231183400-231184000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr2:231183400-231184000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:231183400-231184000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr2:231183400-231184000	Enhancers	Stomach Mucosa	stomach
37	chr2:231183400-231184200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:231183400-231184200	Flanking Active TSS	Thymus	Thymus
39	chr2:231183400-231184400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:231183400-231184400	Enhancers	Adipose Nuclei	Adipose
41	chr2:231183400-231184400	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:231183400-231184400	Enhancers	Left Ventricle	heart
43	chr2:231183400-231184400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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