Variant report

Variant	rs569396801
Chromosome Location	chr2:98588966-98588967
allele	-/GGCA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98582131..98586071-chr2:98586872..98589219,3	K562	blood:
2	chr2:98586492..98590623-chr2:98609849..98613256,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

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	esv3451267	chr2:98588690-98590336	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98563600-98589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:98568200-98599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:98568400-98592000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:98575000-98589000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:98575200-98592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:98575400-98595000	Weak transcription	HSMM	muscle
7	chr2:98580000-98589800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:98581000-98589600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:98583200-98589400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:98583600-98595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:98583800-98589200	Weak transcription	Hela-S3	cervix
12	chr2:98584600-98590000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:98584600-98597000	Weak transcription	Thymus	Thymus
14	chr2:98585000-98608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:98585200-98589800	Weak transcription	Primary B cells from cord blood	blood
16	chr2:98585400-98591200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:98585600-98594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:98586600-98589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:98586600-98589400	Weak transcription	NHDF-Ad	bronchial
20	chr2:98586600-98589600	Weak transcription	Fetal Lung	lung
21	chr2:98586800-98589000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:98586800-98590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:98587000-98594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:98587000-98595600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:98587200-98589000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:98587200-98589200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:98587200-98589800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:98587200-98589800	Weak transcription	Right Atrium	heart
29	chr2:98587200-98590000	Weak transcription	Primary T cells from cord blood	blood
30	chr2:98587200-98591200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:98587400-98589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:98587400-98589000	Weak transcription	Aorta	Aorta
33	chr2:98587400-98589000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:98587400-98589200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:98587400-98589200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:98587400-98589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:98587400-98589800	Weak transcription	Left Ventricle	heart
38	chr2:98587400-98592400	Weak transcription	Ovary	ovary
39	chr2:98587400-98599600	Weak transcription	Spleen	Spleen
40	chr2:98587800-98595400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:98587800-98600000	Weak transcription	Gastric	stomach
42	chr2:98588000-98589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:98588200-98592600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr2:98588200-98596000	Weak transcription	Stomach Mucosa	stomach
45	chr2:98588400-98589200	Weak transcription	GM12878-XiMat	blood
46	chr2:98588400-98589600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:98588400-98590200	Enhancers	Psoas Muscle	Psoas
48	chr2:98588600-98589200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:98588600-98589200	Enhancers	Small Intestine	intestine
50	chr2:98588600-98590400	Weak transcription	Pancreas	Pancrea

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