Variant report

Variant	rs6742212
Chromosome Location	chr2:190527219-190527220
allele	A/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	chr2:190524918..190527666-chr2:190648010..190650648,4	MCF-7	breast:
2	chr2:190306152..190308572-chr2:190526156..190528014,2	MCF-7	breast:
3	chr2:190525941..190528751-chr2:190627393..190630465,6	K562	blood:
4	chr2:190523468..190528374-chr2:190647262..190651485,5	K562	blood:
5	chr2:190443338..190447714-chr2:190524367..190527732,5	K562	blood:
6	chr2:190524327..190528986-chr2:190625993..190629803,6	K562	blood:
7	chr2:190524324..190528374-chr2:190645867..190651485,5	K562	blood:
8	chr2:190525678..190527961-chr2:190541592..190544569,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151687	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000138449	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000115368	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000128699	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs5743008	1.00[AMR][1000 genomes]
rs5743057	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs5743199	1.00[AMR][1000 genomes]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190525600-190527400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr2:190525600-190527400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:190525600-190527600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:190525600-190527800	Active TSS	HMEC	breast
5	chr2:190525600-190529800	Active TSS	GM12878-XiMat	blood
6	chr2:190525800-190527600	Active TSS	Fetal Kidney	kidney
7	chr2:190525800-190527800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:190526000-190527400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:190526000-190527400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:190526000-190527600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:190526000-190527600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:190526000-190527600	Active TSS	Fetal Intestine Small	intestine
13	chr2:190526000-190527800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:190526200-190527400	Active TSS	Aorta	Aorta
15	chr2:190526200-190527400	Active TSS	Ovary	ovary
16	chr2:190526200-190527600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr2:190526200-190527600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:190526200-190527600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr2:190526200-190527800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:190526200-190527800	Active TSS	Right Atrium	heart
21	chr2:190526400-190527400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr2:190526400-190527400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr2:190526400-190527600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:190526400-190527800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr2:190526400-190527800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr2:190526600-190527400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr2:190526600-190527400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:190526600-190527400	Flanking Active TSS	Liver	Liver
29	chr2:190526600-190527400	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr2:190526600-190527400	Flanking Active TSS	Fetal Thymus	thymus
31	chr2:190526600-190527400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:190526600-190527600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:190526600-190527600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:190526600-190527800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:190526600-190527800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr2:190526600-190527800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:190526600-190527800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr2:190526800-190527400	Flanking Active TSS	Colonic Mucosa	Colon
39	chr2:190526800-190527400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:190526800-190527400	Flanking Active TSS	Fetal Brain Male	brain
41	chr2:190526800-190527400	Flanking Active TSS	Fetal Heart	heart
42	chr2:190526800-190527400	Flanking Active TSS	Fetal Stomach	stomach
43	chr2:190526800-190527400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr2:190526800-190527400	Flanking Active TSS	Thymus	Thymus
45	chr2:190526800-190527400	Flanking Active TSS	HSMMtube	muscle
46	chr2:190526800-190527600	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr2:190526800-190527600	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr2:190526800-190527600	Flanking Active TSS	HUVEC	blood vessel
49	chr2:190526800-190527600	Flanking Active TSS	NH-A	brain
50	chr2:190526800-190527600	Flanking Active TSS	Osteobl	bone

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