Variant report

Variant	rs2604880
Chromosome Location	chr19:41198482-41198483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41195136-41198654	K562	blood:	n/a	n/a
2	JUN	chr19:41195293-41198506	K562	blood:	n/a	chr19:41195851-41195862

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41193561..41199772-chr19:41221208..41225709,11	K562	blood:
2	chr19:41185908..41188551-chr19:41197234..41199915,2	K562	blood:
3	chr19:41193560..41201987-chr19:41206623..41212331,16	K562	blood:
4	chr19:41193720..41198590-chr19:41218677..41224410,19	MCF-7	breast:
5	chr19:41197857..41200529-chr19:41314192..41315970,2	K562	blood:
6	chr19:41194805..41199772-chr19:41221674..41225965,11	K562	blood:
7	chr19:41145014..41147599-chr19:41198160..41200878,2	K562	blood:
8	chr19:41193182..41199089-chr19:41206241..41209564,9	MCF-7	breast:
9	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
10	chr19:41191453..41200740-chr19:41219595..41226457,20	MCF-7	breast:
11	chr19:41195613..41198968-chr19:41260956..41263433,3	MCF-7	breast:

No data

Variant related genes	Relation type
NUMBL	TF binding region
ENSG00000077312	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000086544	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73546894	0.81[AFR][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	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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 target site	38 gene(s)	inside rSNPs	diseases
3	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1058707	chr19:41146147-41200820	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1067017	chr19:41185992-41231251	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41196600-41198600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:41196800-41198600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:41197000-41198600	Enhancers	Fetal Brain Male	brain
4	chr19:41197000-41205200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:41197000-41207600	Weak transcription	Fetal Kidney	kidney
6	chr19:41197000-41208000	Weak transcription	Small Intestine	intestine
7	chr19:41197200-41198600	Enhancers	HSMMtube	muscle
8	chr19:41197200-41199200	Weak transcription	Brain Substantia Nigra	brain
9	chr19:41197200-41200200	Weak transcription	Aorta	Aorta
10	chr19:41197200-41200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:41197200-41207400	Weak transcription	Stomach Mucosa	stomach
12	chr19:41197200-41210000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:41197200-41210600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:41197200-41220200	Weak transcription	Fetal Heart	heart
15	chr19:41197200-41220600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:41197400-41198600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr19:41197400-41198800	Weak transcription	Brain Anterior Caudate	brain
18	chr19:41197400-41199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr19:41197400-41199200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:41197400-41199200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:41197400-41199400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:41197400-41199600	Genic enhancers	Fetal Muscle Leg	muscle
23	chr19:41197400-41200200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:41197400-41200400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:41197400-41200400	Weak transcription	Fetal Lung	lung
26	chr19:41197400-41200800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:41197400-41201400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:41197400-41201400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:41197400-41202600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:41197400-41205200	Weak transcription	Colonic Mucosa	Colon
31	chr19:41197400-41205200	Weak transcription	Osteobl	bone
32	chr19:41197400-41207600	Weak transcription	NHDF-Ad	bronchial
33	chr19:41197400-41210600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:41197400-41219800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:41197400-41220000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:41197400-41220000	Strong transcription	Fetal Intestine Small	intestine
37	chr19:41197400-41220200	Weak transcription	HUVEC	blood vessel
38	chr19:41197600-41199000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:41197600-41199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:41197600-41199000	Weak transcription	Dnd41	blood
41	chr19:41197600-41199200	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:41197600-41199200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:41197600-41199400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr19:41197600-41199400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr19:41197600-41200400	Weak transcription	HMEC	breast
46	chr19:41197600-41201200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:41197600-41201600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:41197600-41201800	Weak transcription	HepG2	liver
49	chr19:41197600-41202000	Strong transcription	Liver	Liver
50	chr19:41197600-41202400	Strong transcription	Lung	lung

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