Variant report

Variant	rs11670933
Chromosome Location	chr19:55860549-55860550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55857803..55861096-chr19:55912151..55914962,3	K562	blood:
2	chr19:55854922..55862011-chr19:55892906..55898744,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233493	Chromatin interaction
ENSG00000108107	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11673378	1.00[AMR][1000 genomes]
rs45488296	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
4	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
5	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
6	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
7	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
11	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
12	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
13	esv1799638	chr19:55850652-55883879	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS 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 target site	28 gene(s)	inside rSNPs	diseases
14	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
15	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh 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	196 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55853200-55861400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:55853200-55861800	Weak transcription	Small Intestine	intestine
3	chr19:55853200-55861800	Weak transcription	NHEK	skin
4	chr19:55853200-55862600	Weak transcription	Left Ventricle	heart
5	chr19:55853200-55862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:55853200-55862800	Weak transcription	Primary B cells from cord blood	blood
7	chr19:55853200-55862800	Weak transcription	Osteobl	bone
8	chr19:55853400-55860600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:55853400-55862200	Weak transcription	HepG2	liver
10	chr19:55853400-55864800	Weak transcription	Right Atrium	heart
11	chr19:55853600-55861000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:55853600-55862400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:55853800-55860600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:55854400-55862200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:55855200-55861800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:55855400-55860800	Weak transcription	Brain Anterior Caudate	brain
17	chr19:55855400-55861200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:55855400-55862200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:55855400-55862600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr19:55855400-55862600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:55855600-55861000	Genic enhancers	Fetal Stomach	stomach
22	chr19:55855800-55860600	Genic enhancers	A549	lung
23	chr19:55856000-55861400	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:55856600-55862600	Weak transcription	Brain Substantia Nigra	brain
25	chr19:55857200-55862000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:55857400-55860600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr19:55857400-55861000	Strong transcription	Fetal Intestine Small	intestine
28	chr19:55857600-55861800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr19:55857600-55861800	Weak transcription	Stomach Mucosa	stomach
30	chr19:55857600-55863600	Weak transcription	HSMM	muscle
31	chr19:55857800-55861600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:55857800-55862000	Weak transcription	Hela-S3	cervix
33	chr19:55857800-55864200	Weak transcription	HSMMtube	muscle
34	chr19:55857800-55864600	Weak transcription	K562	blood
35	chr19:55858000-55861800	Weak transcription	Colonic Mucosa	Colon
36	chr19:55858000-55862800	Weak transcription	HMEC	breast
37	chr19:55858400-55861600	Weak transcription	Adipose Nuclei	Adipose
38	chr19:55858600-55861400	Weak transcription	Brain Angular Gyrus	brain
39	chr19:55858800-55861600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:55858800-55861800	Weak transcription	Gastric	stomach
41	chr19:55858800-55862600	Weak transcription	Brain Hippocampus Middle	brain
42	chr19:55858800-55864800	Weak transcription	Ovary	ovary
43	chr19:55859000-55862000	Weak transcription	Spleen	Spleen
44	chr19:55859000-55862600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:55859000-55862800	Weak transcription	NHLF	lung
46	chr19:55859200-55862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:55859400-55860600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr19:55859400-55863000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:55859600-55860600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr19:55859600-55861200	Strong transcription	Brain Germinal Matrix	brain

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