Variant report

Variant	rs7246191
Chromosome Location	chr19:38895004-38895005
allele	G/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38892832..38895683-chr19:38905614..38908476,2	K562	blood:
2	chr19:38892751..38895518-chr19:38905731..38908056,2	MCF-7	breast:
3	chr19:38864536..38866994-chr19:38891927..38895682,4	MCF-7	breast:
4	chr19:38825542..38827860-chr19:38892803..38895034,2	K562	blood:
5	chr19:38893264..38895978-chr19:39340017..39342861,2	MCF-7	breast:
6	chr19:38873942..38878444-chr19:38892255..38895006,5	K562	blood:
7	chr19:38891109..38897587-chr19:38900077..38906045,7	MCF-7	breast:
8	chr19:38892840..38895111-chr19:38906916..38908853,2	MCF-7	breast:
9	chr19:38810024..38812525-chr19:38892478..38895075,3	MCF-7	breast:
10	chr19:38878160..38880019-chr19:38892423..38895031,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188766	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000171777	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000179168	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11083454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11538289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2302228	1.00[EUR][1000 genomes]
rs3745955	0.80[EUR][1000 genomes]
rs3745963	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3760884	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57753437	0.93[EUR][1000 genomes]
rs59491640	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508791	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245668	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257976	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043029	0.81[EUR][1000 genomes]
rs73043030	0.93[EUR][1000 genomes]
rs73043033	0.93[EUR][1000 genomes]
rs73043098	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044923	0.80[EUR][1000 genomes]
rs73044926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044953	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS 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	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv911662	chr19:38872634-38895809	Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1803709	chr19:38874828-38900078	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38893200-38895200	Active TSS	Rectal Smooth Muscle	rectum
2	chr19:38894200-38895200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:38894400-38895200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:38894400-38895200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:38894400-38895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:38894400-38895600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:38894400-38895600	Enhancers	Spleen	Spleen
8	chr19:38894400-38898600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:38894400-38898800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:38894400-38903400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:38894400-38908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:38894600-38895200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr19:38894600-38895200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:38894600-38895200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:38894600-38895200	Enhancers	Fetal Brain Male	brain
16	chr19:38894600-38895200	Enhancers	Fetal Thymus	thymus
17	chr19:38894600-38895200	Enhancers	Lung	lung
18	chr19:38894600-38895200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr19:38894600-38895400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr19:38894600-38895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr19:38894600-38895400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:38894600-38895400	Weak transcription	Right Ventricle	heart
23	chr19:38894600-38895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:38894600-38895600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr19:38894600-38895600	Weak transcription	Gastric	stomach
26	chr19:38894600-38895800	Enhancers	Brain Cingulate Gyrus	brain
27	chr19:38894600-38895800	Weak transcription	Ovary	ovary
28	chr19:38894600-38896000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:38894600-38896000	Weak transcription	HSMMtube	muscle
30	chr19:38894600-38897200	Weak transcription	Aorta	Aorta
31	chr19:38894600-38897200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:38894600-38897400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:38894600-38897400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:38894600-38898000	Weak transcription	Psoas Muscle	Psoas
35	chr19:38894600-38898600	Weak transcription	Fetal Kidney	kidney
36	chr19:38894600-38899200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:38894600-38900400	Weak transcription	A549	lung
38	chr19:38894600-38900400	Weak transcription	NHDF-Ad	bronchial
39	chr19:38894600-38900400	Weak transcription	NHLF	lung
40	chr19:38894600-38900600	Weak transcription	NH-A	brain
41	chr19:38894600-38902000	Weak transcription	HSMM	muscle
42	chr19:38894600-38902000	Weak transcription	NHEK	skin
43	chr19:38894600-38907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:38894600-38908000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:38894600-38908400	Weak transcription	Left Ventricle	heart
46	chr19:38894600-38908400	Weak transcription	HUVEC	blood vessel
47	chr19:38894800-38895200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr19:38894800-38895200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:38894800-38895200	Enhancers	Adipose Nuclei	Adipose
50	chr19:38894800-38895200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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