Variant report

Variant	rs192146336
Chromosome Location	chr2:98607889-98607890
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98450761..98453323-chr2:98606323..98609073,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv3398152	chr2:98607315-98608840	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98585000-98608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:98596000-98609400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:98596800-98608400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:98597000-98609800	Weak transcription	Fetal Stomach	stomach
5	chr2:98598600-98610400	Weak transcription	Placenta	Placenta
6	chr2:98600200-98609400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:98600200-98611600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:98600400-98609800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:98600400-98610200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:98601000-98609200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:98601200-98609400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:98603000-98610000	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:98603400-98609200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:98603400-98610000	Weak transcription	Ovary	ovary
15	chr2:98605200-98608400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:98605200-98608600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:98605200-98609800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:98605400-98608000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:98605400-98609800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:98605600-98608200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:98605600-98609800	Enhancers	Primary B cells from cord blood	blood
22	chr2:98605600-98609800	Weak transcription	NHLF	lung
23	chr2:98606200-98608000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:98606200-98608200	Flanking Active TSS	GM12878-XiMat	blood
25	chr2:98606200-98608400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:98606200-98609800	Enhancers	HepG2	liver
27	chr2:98606200-98610400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:98606200-98611200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:98606200-98611200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:98606400-98608000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:98606400-98608800	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:98606400-98609400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:98606400-98609800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:98606400-98611000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:98606600-98609400	Weak transcription	NHDF-Ad	bronchial
36	chr2:98606600-98609800	Weak transcription	K562	blood
37	chr2:98606600-98610000	Weak transcription	Colonic Mucosa	Colon
38	chr2:98606800-98609400	Weak transcription	Fetal Heart	heart
39	chr2:98606800-98609800	Weak transcription	Thymus	Thymus
40	chr2:98607400-98608600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr2:98607600-98608000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:98607600-98608200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:98607600-98608200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:98607600-98608200	Enhancers	Gastric	stomach
45	chr2:98607600-98608200	Enhancers	Left Ventricle	heart
46	chr2:98607600-98608400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:98607600-98608400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:98607600-98608400	Enhancers	Adipose Nuclei	Adipose
49	chr2:98607600-98608600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:98607600-98608600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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