Variant report

Variant	rs7251736
Chromosome Location	chr19:45618902-45618903
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45609578..45611923-chr19:45617060..45620020,2	K562	blood:
2	chr19:45577491..45579878-chr19:45617001..45619180,2	MCF-7	breast:
3	chr19:45614720..45618977-chr19:45620607..45623011,6	K562	blood:
4	chr19:45573175..45575144-chr19:45618642..45620266,2	MCF-7	breast:
5	chr19:45577654..45580271-chr19:45618383..45621164,2	MCF-7	breast:
6	chr19:45611325..45613893-chr19:45616421..45619737,3	K562	blood:
7	chr19:45614303..45618965-chr19:45619228..45622804,6	K562	blood:
8	chr19:45617752..45619643-chr19:45623341..45625344,2	K562	blood:
9	chr19:45606192..45609291-chr19:45618096..45620954,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170684	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs11666681	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11672002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11672271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12975698	0.83[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12977416	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12981729	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12984180	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.83[TSI][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3178166	0.82[ASN][1000 genomes]
rs35620552	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35836101	0.84[EUR][1000 genomes]
rs3745157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62118469	0.82[ASN][1000 genomes]
rs62118470	0.82[ASN][1000 genomes]
rs7255018	0.82[EUR][1000 genomes]
rs8108762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8109620	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap];0.82[ASN][1000 genomes]
rs968445	0.83[AMR][1000 genomes];0.95[EUR][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	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7251736	GRLF1	cis	parietal	SCAN
rs7251736	VN1R4	cis	parietal	SCAN
rs7251736	MYBPC2	cis	parietal	SCAN
rs7251736	CPT1C	cis	parietal	SCAN
rs7251736	LIN7B	cis	cerebellum	SCAN
rs7251736	BIRC8	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45603800-45619600	Weak transcription	HSMMtube	muscle
2	chr19:45606600-45623400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:45606600-45624800	Weak transcription	NHEK	skin
4	chr19:45606800-45621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:45606800-45634000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:45607200-45625600	Weak transcription	NHLF	lung
7	chr19:45607600-45626600	Weak transcription	Fetal Brain Male	brain
8	chr19:45607800-45620400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:45607800-45620600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:45608000-45619800	Weak transcription	Brain Germinal Matrix	brain
11	chr19:45608000-45620800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr19:45608000-45639400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:45608200-45619800	Weak transcription	Adipose Nuclei	Adipose
14	chr19:45608400-45629200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:45608600-45619400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:45608600-45619600	Weak transcription	Psoas Muscle	Psoas
17	chr19:45608600-45621000	Weak transcription	Fetal Brain Female	brain
18	chr19:45608800-45619600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:45609000-45621400	Weak transcription	Right Atrium	heart
20	chr19:45609200-45619400	Weak transcription	Brain Angular Gyrus	brain
21	chr19:45609200-45620600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:45609200-45620600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:45610400-45644400	Weak transcription	Aorta	Aorta
24	chr19:45611600-45619200	Weak transcription	Thymus	Thymus
25	chr19:45613200-45623600	Weak transcription	Ovary	ovary
26	chr19:45613400-45621800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:45614200-45623000	Enhancers	Stomach Mucosa	stomach
28	chr19:45614400-45619200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:45614400-45619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:45614400-45619400	Weak transcription	Left Ventricle	heart
31	chr19:45614600-45619200	Weak transcription	K562	blood
32	chr19:45614800-45619800	Genic enhancers	Fetal Intestine Small	intestine
33	chr19:45615000-45619200	Weak transcription	Spleen	Spleen
34	chr19:45615000-45619600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:45615400-45619400	Enhancers	Gastric	stomach
36	chr19:45615600-45620200	Enhancers	Lung	lung
37	chr19:45615600-45629800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:45615800-45619600	Enhancers	Esophagus	oesophagus
39	chr19:45615800-45620600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr19:45616000-45622000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:45616000-45623200	Enhancers	Pancreas	Pancrea
42	chr19:45616200-45621000	Weak transcription	Small Intestine	intestine
43	chr19:45616400-45619400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr19:45616400-45619400	Enhancers	GM12878-XiMat	blood
45	chr19:45616400-45620600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:45616400-45623400	Enhancers	Fetal Muscle Leg	muscle
47	chr19:45616800-45619400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr19:45616800-45620800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:45617000-45619400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:45617000-45619400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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