Variant report

Variant	rs8111378
Chromosome Location	chr19:38737651-38737652
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	chr19:38713165..38715399-chr19:38737305..38738983,2	K562	blood:
2	chr19:38732321..38734214-chr19:38737049..38738897,2	K562	blood:
3	chr19:38736023..38740050-chr19:38746676..38748498,3	K562	blood:
4	chr19:38737395..38740237-chr19:38744694..38746196,2	MCF-7	breast:
5	chr19:38736378..38738320-chr19:38779802..38781772,2	MCF-7	breast:
6	chr19:38737430..38739213-chr19:38786926..38789019,2	K562	blood:
7	chr19:38736068..38737890-chr19:38826396..38828005,2	MCF-7	breast:
8	chr19:38734707..38741200-chr19:38793157..38796642,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167644	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000267748	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167641	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10993	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880301	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880459	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745948	0.88[ASN][1000 genomes]
rs59648079	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60163114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508780	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249532	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253827	0.82[EUR][1000 genomes]
rs7260295	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030311	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101482	0.91[ASN][1000 genomes]
rs8112201	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38720600-38740400	Weak transcription	Right Atrium	heart
2	chr19:38734800-38738800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr19:38734800-38741200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:38734800-38741400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:38734800-38741400	Weak transcription	HMEC	breast
6	chr19:38734800-38743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:38735000-38738400	Weak transcription	HepG2	liver
8	chr19:38735000-38741200	Weak transcription	Fetal Lung	lung
9	chr19:38735000-38741200	Weak transcription	Lung	lung
10	chr19:38735000-38741400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:38735200-38738800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr19:38735600-38738400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:38735600-38739000	Enhancers	HSMMtube	muscle
14	chr19:38735800-38738200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr19:38735800-38738600	Weak transcription	Colonic Mucosa	Colon
16	chr19:38735800-38738600	Weak transcription	Fetal Intestine Large	intestine
17	chr19:38735800-38738600	Weak transcription	Stomach Mucosa	stomach
18	chr19:38735800-38738800	Weak transcription	A549	lung
19	chr19:38735800-38741000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:38735800-38741000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:38735800-38741200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:38735800-38741200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:38735800-38741200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:38735800-38741200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:38735800-38741200	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:38735800-38741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:38735800-38741200	Weak transcription	Hela-S3	cervix
28	chr19:38735800-38741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr19:38735800-38741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:38735800-38741600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:38735800-38742400	Weak transcription	K562	blood
32	chr19:38736000-38741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:38736200-38738600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:38736400-38737800	Enhancers	HSMM	muscle
35	chr19:38736400-38738400	Weak transcription	Fetal Intestine Small	intestine
36	chr19:38736400-38738400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:38736400-38739000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:38736400-38739200	Enhancers	Brain Substantia Nigra	brain
39	chr19:38736400-38739400	Enhancers	Brain Hippocampus Middle	brain
40	chr19:38736600-38738000	Enhancers	Brain Angular Gyrus	brain
41	chr19:38736600-38738000	Enhancers	Osteobl	bone
42	chr19:38736600-38738600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:38736800-38741000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:38737000-38737800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr19:38737000-38738400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:38737000-38738400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr19:38737000-38738600	Weak transcription	NHDF-Ad	bronchial
48	chr19:38737000-38738800	Weak transcription	Right Ventricle	heart
49	chr19:38737000-38740400	Weak transcription	Placenta	Placenta
50	chr19:38737200-38738000	Enhancers	Muscle Satellite Cultured Cells	--

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