Variant report

Variant	rs11672710
Chromosome Location	chr19:55779122-55779123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55777858..55780757-chr19:55781409..55785312,6	K562	blood:
2	chr19:55774274..55779427-chr19:55781222..55784326,4	MCF-7	breast:
3	chr19:55769636..55772439-chr19:55775866..55779164,3	MCF-7	breast:
4	chr19:55777829..55780737-chr19:55781551..55785308,5	K562	blood:

Variant related genes	Relation type
ENSG00000105063	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10411896	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11665832	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669313	0.98[EUR][1000 genomes]
rs11672373	0.87[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs11672774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159664	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848608	1.00[CHB][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap]
rs3848610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs4644955	0.88[GIH][hapmap]
rs4806652	1.00[CHB][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap]
rs62126346	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126347	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126348	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126357	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes]
rs7258327	0.94[EUR][1000 genomes]
rs8104509	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs8105032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	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
7	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	esv3360304	chr19:55775740-55779938	Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771400-55780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:55771400-55780600	Weak transcription	Brain Substantia Nigra	brain
3	chr19:55771400-55780800	Weak transcription	Right Ventricle	heart
4	chr19:55771400-55781400	Weak transcription	Liver	Liver
5	chr19:55771400-55783600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:55771400-55784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:55771400-55787800	Weak transcription	Osteobl	bone
8	chr19:55771400-55788400	Weak transcription	Stomach Mucosa	stomach
9	chr19:55771400-55790400	Weak transcription	HSMM	muscle
10	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
11	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
12	chr19:55771600-55779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:55771600-55779200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr19:55771600-55779800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:55771600-55780600	Weak transcription	Brain Anterior Caudate	brain
16	chr19:55771600-55781000	Weak transcription	Adipose Nuclei	Adipose
17	chr19:55771600-55781800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:55771600-55781800	Weak transcription	Aorta	Aorta
19	chr19:55771600-55782600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:55771600-55783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:55771600-55783400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:55771600-55783600	Weak transcription	Placenta	Placenta
23	chr19:55771600-55785200	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:55771600-55788000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
26	chr19:55771800-55781000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:55771800-55781600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:55771800-55783000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr19:55771800-55788000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:55772000-55780200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:55772000-55780400	Weak transcription	Primary T cells from cord blood	blood
32	chr19:55772000-55781600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:55772000-55781800	Weak transcription	HSMMtube	muscle
34	chr19:55772000-55783000	Weak transcription	HepG2	liver
35	chr19:55772000-55783400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr19:55772000-55783400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:55772000-55783600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:55772000-55784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:55772000-55784800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:55772200-55781000	Weak transcription	Primary B cells from cord blood	blood
41	chr19:55772200-55781200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:55772200-55782600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr19:55772200-55784200	Weak transcription	Fetal Thymus	thymus
44	chr19:55772200-55787400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:55772200-55790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr19:55772400-55789800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr19:55772800-55790200	Strong transcription	Fetal Stomach	stomach
48	chr19:55774000-55779200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:55774000-55781200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:55774000-55781200	Weak transcription	Brain Inferior Temporal Lobe	brain

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