Variant report

Variant	rs4644955
Chromosome Location	chr19:55738634-55738635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55732279..55738678-chr19:55765531..55770516,7	K562	blood:
2	chr19:55736478..55738648-chr19:55750947..55753779,2	K562	blood:
3	chr19:55737210..55740229-chr19:55741126..55744249,3	MCF-7	breast:
4	chr19:55736940..55740249-chr19:55897225..55900387,3	K562	blood:
5	chr19:55736575..55738793-chr19:55769011..55771822,2	MCF-7	breast:
6	chr19:55736988..55739984-chr19:55743575..55745735,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180089	Chromatin interaction
ENSG00000266462	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000105063	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11672373	0.84[GIH][hapmap]
rs11672710	0.88[GIH][hapmap]
rs3848608	0.96[GIH][hapmap]
rs3848610	0.96[GIH][hapmap]
rs4337407	0.92[GIH][hapmap]
rs4806652	0.96[GIH][hapmap]
rs6509938	0.96[GIH][hapmap]
rs9284430	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55728600-55740200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:55728600-55741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:55728600-55742400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:55728800-55739200	Weak transcription	Left Ventricle	heart
5	chr19:55728800-55739600	Weak transcription	GM12878-XiMat	blood
6	chr19:55728800-55740000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:55728800-55740600	Weak transcription	Small Intestine	intestine
8	chr19:55728800-55741000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:55728800-55742400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:55728800-55743800	Weak transcription	HSMM	muscle
11	chr19:55728800-55744000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:55728800-55745600	Weak transcription	HSMMtube	muscle
13	chr19:55728800-55747800	Weak transcription	Psoas Muscle	Psoas
14	chr19:55728800-55747800	Weak transcription	NH-A	brain
15	chr19:55729400-55744000	Weak transcription	NHDF-Ad	bronchial
16	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
17	chr19:55730800-55744000	Weak transcription	Fetal Kidney	kidney
18	chr19:55732200-55738800	Weak transcription	Liver	Liver
19	chr19:55732400-55739200	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:55732600-55739800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:55732800-55742200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:55732800-55742200	Weak transcription	Fetal Lung	lung
23	chr19:55733800-55742200	Weak transcription	HMEC	breast
24	chr19:55733800-55758600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:55734200-55758400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr19:55734600-55759800	Strong transcription	Brain Anterior Caudate	brain
29	chr19:55734800-55758600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr19:55735000-55739000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:55735000-55742600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:55735000-55762400	Strong transcription	Thymus	Thymus
33	chr19:55735200-55742600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:55735200-55744600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr19:55735200-55762200	Strong transcription	Fetal Thymus	thymus
36	chr19:55735400-55739200	Strong transcription	Spleen	Spleen
37	chr19:55736000-55741200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:55736800-55739200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr19:55736800-55740600	Strong transcription	Brain Angular Gyrus	brain
40	chr19:55736800-55741200	Strong transcription	Primary B cells from cord blood	blood
41	chr19:55736800-55744400	Strong transcription	NHLF	lung
42	chr19:55736800-55760000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:55736800-55764200	Strong transcription	Dnd41	blood
44	chr19:55737000-55739400	Strong transcription	Gastric	stomach
45	chr19:55737000-55745000	Strong transcription	Colonic Mucosa	Colon
46	chr19:55737000-55746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr19:55737000-55758200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr19:55737000-55758200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:55737000-55758400	Strong transcription	Brain Substantia Nigra	brain
50	chr19:55737000-55758600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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