Variant report

Variant	rs7247719
Chromosome Location	chr19:55965635-55965636
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55952279..55955138-chr19:55963056..55965766,3	K562	blood:
2	chr19:55768403..55770603-chr19:55963034..55965781,2	K562	blood:
3	chr19:55956258..55958945-chr19:55964103..55966551,2	K562	blood:
4	chr19:55963302..55966247-chr19:56117122..56119582,2	K562	blood:
5	chr19:55962879..55966431-chr19:56013063..56017664,4	K562	blood:
6	chr19:55963237..55966425-chr19:55989269..55992485,3	K562	blood:
7	chr19:55964915..55966958-chr19:56152410..56155336,2	K562	blood:
8	chr19:55951925..55955138-chr19:55963056..55965766,4	K562	blood:
9	chr19:55894504..55900051-chr19:55962971..55968155,6	K562	blood:
10	chr19:55901948..55903653-chr19:55965292..55966908,2	K562	blood:
11	chr19:55963041..55966300-chr19:55968298..55973344,6	MCF-7	breast:
12	chr19:55915948..55921315-chr19:55958410..55968133,14	K562	blood:
13	chr19:55962879..55966271-chr19:56014948..56017664,3	K562	blood:
14	chr19:55917232..55920888-chr19:55959942..55966428,7	K562	blood:
15	chr19:55962858..55966620-chr19:55998648..56002437,4	K562	blood:
16	chr19:55895254..55899821-chr19:55961359..55968155,8	K562	blood:
17	chr19:55962707..55966415-chr19:56152837..56156064,3	K562	blood:
18	chr19:55962858..55965792-chr19:55998648..56000316,2	K562	blood:
19	chr19:55964045..55966011-chr19:56013009..56014563,2	K562	blood:
20	chr19:55910368..55912840-chr19:55964651..55967610,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHISA7-1	chr19:55965266-55966952	NONHSAT068040

No data

Variant related genes	Relation type
ENSG00000108107	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000179954	Chromatin interaction
ENSG00000171425	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10412033	0.93[MEX][hapmap];0.83[TSI][hapmap]
rs12462602	0.97[ASN][1000 genomes]
rs2303089	1.00[ASW][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62128233	0.97[ASN][1000 genomes]
rs7253234	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73606267	0.88[AMR][1000 genomes]
rs73606269	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55960600-55966600	Weak transcription	Pancreas	Pancrea
2	chr19:55963800-55971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:55964000-55970400	Weak transcription	Fetal Lung	lung
4	chr19:55964000-55971200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:55964000-55971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:55964000-55971200	Weak transcription	NHLF	lung
7	chr19:55964000-55971400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:55964000-55971800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr19:55964200-55966600	Weak transcription	Colonic Mucosa	Colon
10	chr19:55964200-55966600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:55964200-55967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:55964200-55967600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:55964200-55968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:55964200-55969200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:55964200-55971000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:55964200-55971000	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:55964200-55971000	Weak transcription	Left Ventricle	heart
18	chr19:55964200-55971000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:55964200-55971200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:55964200-55971200	Weak transcription	Osteobl	bone
21	chr19:55964200-55971400	Weak transcription	HUVEC	blood vessel
22	chr19:55964200-55971600	Weak transcription	NHEK	skin
23	chr19:55964200-55972200	Weak transcription	Small Intestine	intestine
24	chr19:55964400-55966000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:55964400-55966200	Weak transcription	Gastric	stomach
26	chr19:55964400-55966600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:55964400-55971000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:55964400-55971000	Weak transcription	Stomach Mucosa	stomach
29	chr19:55964400-55971200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr19:55964400-55972000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:55964400-55972000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:55964600-55965800	Weak transcription	Lung	lung
33	chr19:55964600-55966000	Genic enhancers	HepG2	liver
34	chr19:55964600-55966600	Weak transcription	Ovary	ovary
35	chr19:55964600-55966800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:55964600-55966800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:55964600-55968400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:55964600-55971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:55964600-55972200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr19:55964600-55972200	Weak transcription	Primary T cells from cord blood	blood
41	chr19:55964800-55966200	Enhancers	Brain Hippocampus Middle	brain
42	chr19:55964800-55966200	Enhancers	Brain Substantia Nigra	brain
43	chr19:55964800-55966600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr19:55964800-55966800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:55964800-55967000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:55964800-55967000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:55964800-55967000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:55964800-55967200	Strong transcription	Thymus	Thymus
49	chr19:55964800-55967400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:55964800-55967600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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