Variant report

Variant	rs62118469
Chromosome Location	chr19:45669768-45669769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45664293..45670548-chr19:45677917..45684715,10	MCF-7	breast:
2	chr19:45663965..45672033-chr19:45672145..45675901,9	K562	blood:
3	chr19:45579089..45581981-chr19:45667540..45670366,2	K562	blood:
4	chr19:45667124..45670268-chr19:45680467..45683235,3	K562	blood:
5	chr19:45667869..45670716-chr19:45675537..45677306,2	MCF-7	breast:
6	chr19:45665456..45669944-chr19:45672662..45676859,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007255	Chromatin interaction
ENSG00000267545	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000170684	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11672002	0.84[ASN][1000 genomes]
rs12975698	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12981729	0.82[ASN][1000 genomes]
rs35620552	0.80[ASN][1000 genomes]
rs62118470	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251736	0.82[ASN][1000 genomes]
rs8108762	0.80[ASN][1000 genomes]
rs8109620	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1798099	chr19:45664218-45681988	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45660200-45674000	Weak transcription	A549	lung
2	chr19:45664000-45670200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:45665400-45669800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:45665400-45670000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:45665400-45670200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:45665400-45680400	Weak transcription	Brain Substantia Nigra	brain
7	chr19:45665400-45680600	Weak transcription	Fetal Lung	lung
8	chr19:45665600-45680400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:45665800-45674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:45665800-45680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:45665800-45680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:45666000-45669800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:45666400-45670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr19:45666600-45671000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:45667000-45670400	Enhancers	Fetal Thymus	thymus
16	chr19:45667000-45670600	Enhancers	Placenta	Placenta
17	chr19:45667400-45681000	Weak transcription	Aorta	Aorta
18	chr19:45667600-45672000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr19:45667800-45669800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:45667800-45669800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:45668000-45669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:45668000-45670000	Weak transcription	HUVEC	blood vessel
23	chr19:45668000-45671000	Weak transcription	Hela-S3	cervix
24	chr19:45668000-45674600	Weak transcription	HSMMtube	muscle
25	chr19:45668000-45680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:45668200-45669800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:45668200-45669800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:45668200-45669800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:45668200-45670600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:45668200-45672800	Weak transcription	Ovary	ovary
31	chr19:45668200-45674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:45668200-45676000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:45668400-45669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:45668400-45670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:45668400-45670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:45668400-45670000	Weak transcription	Adipose Nuclei	Adipose
37	chr19:45668400-45670000	Weak transcription	Gastric	stomach
38	chr19:45668400-45670000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:45668400-45670200	Weak transcription	NHEK	skin
40	chr19:45668400-45672000	Weak transcription	Fetal Intestine Small	intestine
41	chr19:45668400-45673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr19:45668400-45673800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:45668400-45673800	Weak transcription	Stomach Mucosa	stomach
44	chr19:45668400-45675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:45668400-45676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:45668400-45680400	Weak transcription	Fetal Intestine Large	intestine
47	chr19:45668400-45680600	Weak transcription	Colon Smooth Muscle	Colon
48	chr19:45668400-45680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:45668600-45669800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr19:45668600-45669800	Weak transcription	Fetal Muscle Leg	muscle

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