Variant report

Variant	rs7249516
Chromosome Location	chr19:36105908-36105909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36105812-36106326	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36099231..36101365-chr19:36104806..36106738,2	K562	blood:
2	chr19:36103494..36107429-chr19:36109770..36112878,4	MCF-7	breast:
3	chr19:36104768..36106692-chr19:36109509..36111994,2	MCF-7	breast:
4	chr19:36105388..36109287-chr19:36131670..36134423,3	MCF-7	breast:
5	chr19:36104355..36106456-chr19:36114819..36117211,2	MCF-7	breast:
6	chr19:36105395..36107902-chr19:36112782..36114444,2	MCF-7	breast:
7	chr19:36105605..36107645-chr19:36117963..36120587,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267626	TF binding region
HAUS5	TF binding region
ENSG00000249115	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000105672	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10403109	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10415370	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10418323	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10418680	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10420252	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10420286	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs12459935	0.85[CEU][hapmap];0.92[JPT][hapmap]
rs1544332	0.92[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267585	0.91[JPT][hapmap]
rs2285419	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2311873	0.85[CEU][hapmap]
rs57405530	0.95[EUR][1000 genomes]
rs57411749	0.95[EUR][1000 genomes]
rs6510502	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36104200-36106000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:36104200-36106000	Weak transcription	Fetal Intestine Large	intestine
3	chr19:36104200-36106200	Weak transcription	Esophagus	oesophagus
4	chr19:36104200-36107600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:36104200-36109200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36104200-36118800	Weak transcription	Left Ventricle	heart
7	chr19:36104200-36119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:36104200-36119000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:36104200-36119000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:36104200-36119000	Weak transcription	Colonic Mucosa	Colon
11	chr19:36104200-36119000	Weak transcription	Psoas Muscle	Psoas
12	chr19:36104200-36119000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:36104200-36119000	Weak transcription	HSMMtube	muscle
14	chr19:36104200-36119200	Weak transcription	Aorta	Aorta
15	chr19:36104400-36106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:36104400-36106000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:36104400-36106000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:36104400-36106000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:36104400-36106000	Weak transcription	Adipose Nuclei	Adipose
20	chr19:36104400-36106000	Weak transcription	Brain Anterior Caudate	brain
21	chr19:36104400-36106000	Weak transcription	NHLF	lung
22	chr19:36104400-36106200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:36104400-36106200	Weak transcription	Primary B cells from cord blood	blood
24	chr19:36104400-36106200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:36104400-36106200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:36104400-36106200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:36104400-36106200	Weak transcription	Brain Angular Gyrus	brain
28	chr19:36104400-36106600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr19:36104400-36107400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr19:36104400-36107600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:36104400-36107600	Weak transcription	HepG2	liver
32	chr19:36104400-36107600	Weak transcription	NHEK	skin
33	chr19:36104400-36107800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:36104400-36107800	Weak transcription	Fetal Kidney	kidney
35	chr19:36104400-36108000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr19:36104400-36109000	Weak transcription	Right Ventricle	heart
37	chr19:36104400-36111000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:36104400-36118800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:36104400-36118800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:36104400-36118800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:36104400-36118800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr19:36104400-36119000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:36104400-36119000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:36104400-36119000	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:36104400-36119000	Weak transcription	Small Intestine	intestine
46	chr19:36104400-36119000	Weak transcription	HSMM	muscle
47	chr19:36104400-36119000	Weak transcription	HUVEC	blood vessel
48	chr19:36104400-36119000	Weak transcription	NHDF-Ad	bronchial
49	chr19:36104400-36119000	Weak transcription	Osteobl	bone
50	chr19:36104400-36119200	Weak transcription	NH-A	brain

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