Variant report

Variant	rs539731352
Chromosome Location	chr2:99079617-99079618
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99078388..99081770-chr2:99082152..99084832,3	MCF-7	breast:
2	chr2:99072618..99074248-chr2:99078750..99080386,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450842	chr2:99079248-99079627	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	n/a	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	chr2:99068800-99079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:99071200-99079800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:99071600-99080200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:99072200-99081200	Weak transcription	Fetal Brain Male	brain
5	chr2:99072200-99083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:99072200-99086200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:99072400-99079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:99072400-99095000	Weak transcription	Fetal Intestine Large	intestine
9	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
10	chr2:99073400-99079800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:99073600-99082200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:99074000-99080200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:99074000-99081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:99074000-99082200	Weak transcription	HepG2	liver
15	chr2:99074200-99082200	Weak transcription	NHEK	skin
16	chr2:99074800-99081200	Weak transcription	NH-A	brain
17	chr2:99075000-99081800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:99075200-99080200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:99075200-99080600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:99075200-99082200	Weak transcription	NHLF	lung
21	chr2:99075400-99079800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr2:99075400-99084000	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:99075600-99091800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:99075800-99080000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:99075800-99080400	Enhancers	Fetal Thymus	thymus
26	chr2:99075800-99081800	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:99076200-99079800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:99076200-99083800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:99076400-99082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:99076400-99082000	Weak transcription	Hela-S3	cervix
31	chr2:99076400-99082000	Weak transcription	HMEC	breast
32	chr2:99076400-99095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:99076600-99085000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:99076800-99080400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:99076800-99082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:99077600-99085200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:99077800-99079800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:99077800-99079800	Weak transcription	K562	blood
39	chr2:99077800-99081600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:99078000-99080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:99078000-99080200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:99078000-99081000	Weak transcription	HSMMtube	muscle
43	chr2:99078000-99081600	Weak transcription	HSMM	muscle
44	chr2:99078200-99079800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:99078200-99081600	Weak transcription	Stomach Mucosa	stomach
46	chr2:99078200-99082200	Weak transcription	A549	lung
47	chr2:99078400-99079800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:99078400-99079800	Weak transcription	Right Atrium	heart
49	chr2:99078400-99080000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:99078400-99080000	Weak transcription	Adipose Nuclei	Adipose

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