Variant report

Variant	rs73030309
Chromosome Location	chr19:38741577-38741578
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38741148..38742854-chr19:38800133..38802964,2	K562	blood:
2	chr19:38741131..38744022-chr19:38825237..38827049,2	K562	blood:
3	chr19:38738453..38743024-chr19:38754092..38756254,6	MCF-7	breast:
4	chr19:38715033..38716998-chr19:38741502..38743244,2	K562	blood:
5	chr19:38721780..38723384-chr19:38741406..38743027,2	K562	blood:

Variant related genes	Relation type
ENSG00000167642	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167645	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10993	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880301	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880326	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880459	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745948	0.88[ASN][1000 genomes]
rs59648079	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60163114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508780	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249532	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260295	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030308	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];0.95[EUR][1000 genomes]
rs8101482	0.91[ASN][1000 genomes]
rs8111378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112201	0.87[AMR][1000 genomes];0.92[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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38734800-38743800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:38735800-38741600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr19:38735800-38742400	Weak transcription	K562	blood
4	chr19:38737200-38741600	Weak transcription	Primary B cells from cord blood	blood
5	chr19:38737800-38742000	Weak transcription	HSMM	muscle
6	chr19:38738000-38741800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:38738000-38742000	Weak transcription	Osteobl	bone
8	chr19:38738400-38741600	Enhancers	HepG2	liver
9	chr19:38738600-38743000	Enhancers	Fetal Intestine Large	intestine
10	chr19:38738800-38741600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:38739000-38741600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:38739000-38741600	Weak transcription	HSMMtube	muscle
13	chr19:38739000-38741800	Weak transcription	NHDF-Ad	bronchial
14	chr19:38739200-38741600	Weak transcription	Esophagus	oesophagus
15	chr19:38739400-38741800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr19:38740000-38742000	Enhancers	Fetal Intestine Small	intestine
17	chr19:38740400-38741800	Enhancers	Adipose Nuclei	Adipose
18	chr19:38740400-38742000	Enhancers	Right Atrium	heart
19	chr19:38740400-38742600	Enhancers	Placenta	Placenta
20	chr19:38740400-38745800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr19:38740800-38742000	Genic enhancers	Fetal Stomach	stomach
22	chr19:38741000-38741600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:38741000-38741600	Enhancers	Colonic Mucosa	Colon
24	chr19:38741000-38741600	Enhancers	Ovary	ovary
25	chr19:38741000-38741600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr19:38741000-38741600	Enhancers	Spleen	Spleen
27	chr19:38741000-38741800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr19:38741000-38742000	Enhancers	Brain Angular Gyrus	brain
29	chr19:38741000-38742000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr19:38741000-38742600	Enhancers	Liver	Liver
31	chr19:38741200-38741600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr19:38741200-38741600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr19:38741200-38741600	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
34	chr19:38741200-38741600	Enhancers	Right Ventricle	heart
35	chr19:38741200-38741600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
36	chr19:38741200-38741600	Enhancers	Hela-S3	cervix
37	chr19:38741200-38741800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:38741200-38741800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr19:38741200-38741800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:38741200-38741800	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr19:38741200-38741800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr19:38741200-38741800	Enhancers	Rectal Smooth Muscle	rectum
43	chr19:38741200-38742000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr19:38741200-38742000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr19:38741200-38742200	Enhancers	Fetal Lung	lung
46	chr19:38741200-38742400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr19:38741200-38742600	Enhancers	Lung	lung
48	chr19:38741200-38742800	Enhancers	Fetal Kidney	kidney
49	chr19:38741200-38742800	Enhancers	Gastric	stomach
50	chr19:38741200-38743200	Enhancers	Stomach Mucosa	stomach

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