Variant report

Variant	rs533181193
Chromosome Location	chr2:127415078-127415079
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	chr2:127414075..127416361-chr2:127822342..127824026,2	K562	blood:

Variant related genes	Relation type
ENSG00000136717	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875002	chr2:127412013-127420211	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875003	chr2:127412495-127419582	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875004	chr2:127412495-127420211	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv583012	chr2:127414661-127420228	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv875005	chr2:127414661-127423066	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127412800-127416200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:127413000-127416600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr2:127413000-127416800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr2:127413000-127417000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:127413200-127415200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:127413200-127415200	Active TSS	Brain Substantia Nigra	brain
7	chr2:127413200-127415400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:127413200-127415400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:127413200-127415400	Active TSS	Psoas Muscle	Psoas
10	chr2:127413200-127415800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:127413200-127415800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:127413200-127416000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:127413400-127415200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:127413400-127415200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:127413400-127415200	Active TSS	Colon Smooth Muscle	Colon
16	chr2:127413400-127415200	Active TSS	NHLF	lung
17	chr2:127413400-127415400	Active TSS	Brain Anterior Caudate	brain
18	chr2:127413400-127415400	Active TSS	Brain Hippocampus Middle	brain
19	chr2:127413400-127415400	Active TSS	Pancreas	Pancrea
20	chr2:127413400-127415400	Active TSS	Right Ventricle	heart
21	chr2:127413400-127415600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr2:127413400-127416200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:127413600-127415200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr2:127413600-127415200	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr2:127413600-127415200	Active TSS	Gastric	stomach
26	chr2:127413600-127415400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:127413600-127415400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:127413600-127415400	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr2:127413600-127415600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:127413600-127415600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr2:127413600-127415600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr2:127414000-127415200	Active TSS	Brain Cingulate Gyrus	brain
33	chr2:127414000-127417400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr2:127414200-127415600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:127414200-127415600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr2:127414200-127415600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr2:127414200-127415600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr2:127414200-127415800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:127414200-127416200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr2:127414200-127416200	Flanking Active TSS	NH-A	brain
41	chr2:127414200-127417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:127414200-127417400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr2:127414400-127415200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr2:127414400-127415400	Flanking Active TSS	Fetal Kidney	kidney
45	chr2:127414400-127415400	Flanking Active TSS	HSMMtube	muscle
46	chr2:127414400-127415600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:127414400-127415800	Active TSS	Colonic Mucosa	Colon
48	chr2:127414400-127416000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:127414400-127416000	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr2:127414400-127416000	Flanking Active TSS	Fetal Muscle Leg	muscle

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