Variant report

Variant	rs4643578
Chromosome Location	chr2:190526684-190526685
allele	C/T
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
ENSG00000138449	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000151687	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12614807	0.91[ASN][1000 genomes]
rs12620204	0.91[ASN][1000 genomes]
rs3828267	0.92[ASN][1000 genomes]
rs5742967	0.83[EUR][1000 genomes]
rs6434358	0.91[ASN][1000 genomes]
rs6434360	0.89[ASN][1000 genomes]
rs6718862	0.91[ASN][1000 genomes]
rs73979023	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73979024	0.92[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190525600-190526800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:190525600-190526800	Active TSS	Fetal Brain Male	brain
3	chr2:190525600-190526800	Active TSS	Thymus	Thymus
4	chr2:190525600-190527000	Active TSS	NHEK	skin
5	chr2:190525600-190527200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:190525600-190527200	Active TSS	NHLF	lung
7	chr2:190525600-190527400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:190525600-190527400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:190525600-190527600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:190525600-190527800	Active TSS	HMEC	breast
11	chr2:190525600-190529800	Active TSS	GM12878-XiMat	blood
12	chr2:190525800-190526800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:190525800-190526800	Active TSS	Stomach Smooth Muscle	stomach
14	chr2:190525800-190526800	Active TSS	Dnd41	blood
15	chr2:190525800-190526800	Active TSS	Osteobl	bone
16	chr2:190525800-190527000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:190525800-190527000	Active TSS	NHDF-Ad	bronchial
18	chr2:190525800-190527200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:190525800-190527200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:190525800-190527200	Active TSS	A549	lung
21	chr2:190525800-190527600	Active TSS	Fetal Kidney	kidney
22	chr2:190525800-190527800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:190526000-190526800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:190526000-190526800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:190526000-190526800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:190526000-190526800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:190526000-190526800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:190526000-190526800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:190526000-190526800	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr2:190526000-190526800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr2:190526000-190526800	Active TSS	Brain Anterior Caudate	brain
32	chr2:190526000-190526800	Active TSS	Brain Germinal Matrix	brain
33	chr2:190526000-190526800	Active TSS	Brain Hippocampus Middle	brain
34	chr2:190526000-190526800	Active TSS	Colonic Mucosa	Colon
35	chr2:190526000-190526800	Active TSS	Duodenum Mucosa	Duodenum
36	chr2:190526000-190526800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr2:190526000-190526800	Active TSS	Placenta	Placenta
38	chr2:190526000-190526800	Active TSS	Fetal Stomach	stomach
39	chr2:190526000-190526800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr2:190526000-190526800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr2:190526000-190526800	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr2:190526000-190526800	Active TSS	HSMMtube	muscle
43	chr2:190526000-190526800	Active TSS	HUVEC	blood vessel
44	chr2:190526000-190526800	Active TSS	NH-A	brain
45	chr2:190526000-190527000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:190526000-190527000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:190526000-190527000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:190526000-190527000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:190526000-190527000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:190526000-190527000	Active TSS	Muscle Satellite Cultured Cells	--

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