Variant report

Variant	rs575706827
Chromosome Location	chr2:191273330-191273331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191272262..191274939-chr2:191333629..191335814,2	MCF-7	breast:
2	chr2:191232283..191235106-chr2:191272706..191274515,2	MCF-7	breast:
3	chr16:67280436..67281099-chr2:191273288..191273988,2	Hela-S3	cervix:
4	chr15:60689275..60690120-chr2:191273278..191273855,2	Hela-S3	cervix:
5	chr2:191272728..191274553-chr2:191298568..191301564,2	MCF-7	breast:
6	chr2:191271631..191274450-chr2:191332507..191334267,2	MCF-7	breast:
7	chr2:191207151..191209417-chr2:191272894..191274824,2	MCF-7	breast:
8	chr2:191271812..191274120-chr2:191398223..191400840,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135740	Chromatin interaction
ENSG00000233654	Chromatin interaction
ENSG00000151689	Chromatin interaction
ENSG00000151690	Chromatin interaction
ENSG00000198130	Chromatin interaction
ENSG00000189362	Chromatin interaction
ENSG00000182718	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327951	chr2:191272332-191274880	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191271800-191273800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr2:191271800-191274400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:191272000-191273800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:191272000-191274000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:191272000-191274200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:191272200-191273800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:191272200-191273800	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr2:191272200-191273800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:191272200-191273800	Active TSS	Brain Substantia Nigra	brain
10	chr2:191272200-191273800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:191272200-191274000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr2:191272200-191274000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:191272200-191274200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:191272400-191273600	Weak transcription	Fetal Heart	heart
15	chr2:191272400-191273800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:191272400-191273800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:191272400-191273800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:191272400-191273800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:191272400-191273800	Active TSS	Hela-S3	cervix
20	chr2:191272400-191273800	Active TSS	HSMM	muscle
21	chr2:191272400-191274000	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr2:191272400-191274000	Active TSS	Aorta	Aorta
23	chr2:191272400-191274000	Active TSS	Brain Angular Gyrus	brain
24	chr2:191272400-191274000	Active TSS	Pancreas	Pancrea
25	chr2:191272400-191274000	Active TSS	Thymus	Thymus
26	chr2:191272400-191274200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr2:191272400-191274200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:191272400-191274200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:191272400-191274200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:191272400-191274200	Active TSS	Brain Anterior Caudate	brain
31	chr2:191272400-191274200	Active TSS	Right Ventricle	heart
32	chr2:191272400-191274200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr2:191272400-191274200	Active TSS	HSMMtube	muscle
34	chr2:191272400-191274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:191272400-191274600	Active TSS	Left Ventricle	heart
36	chr2:191272400-191275000	Active TSS	Right Atrium	heart
37	chr2:191272600-191273400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:191272600-191273400	Weak transcription	Stomach Mucosa	stomach
39	chr2:191272600-191273600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr2:191272600-191273600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:191272600-191273600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:191272600-191273600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:191272600-191273600	Weak transcription	Fetal Brain Male	brain
44	chr2:191272600-191273600	Weak transcription	Fetal Kidney	kidney
45	chr2:191272600-191273600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
46	chr2:191272600-191273600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr2:191272600-191273600	Active TSS	Osteobl	bone
48	chr2:191272600-191273800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr2:191272600-191273800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:191272600-191273800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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