Variant report

Variant	rs11880564
Chromosome Location	chr19:41831196-41831197
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41828482..41836150-chr19:41836490..41842395,12	K562	blood:
2	chr19:41811198..41813629-chr19:41830281..41833026,2	K562	blood:
3	chr19:41830987..41833840-chr19:41863132..41865918,2	MCF-7	breast:
4	chr19:41710873..41712522-chr19:41830997..41833166,2	K562	blood:
5	chr19:41771700..41774253-chr19:41830913..41833263,2	K562	blood:
6	chr19:41829468..41831265-chr19:41933242..41935169,2	MCF-7	breast:
7	chr19:41827333..41835079-chr19:41855373..41860241,10	K562	blood:
8	chr19:41825452..41832651-chr19:41855170..41863054,16	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000142046	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10410836	0.86[EUR][1000 genomes]
rs10421990	0.86[EUR][1000 genomes]
rs1056854	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11466347	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11466359	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11879429	0.85[ASN][1000 genomes]
rs11879435	0.85[ASN][1000 genomes]
rs11879562	0.86[EUR][1000 genomes]
rs11880729	0.85[ASN][1000 genomes]
rs11881940	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11881953	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12327659	0.86[EUR][1000 genomes]
rs12972266	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12972949	0.90[ASN][1000 genomes]
rs12974323	0.86[EUR][1000 genomes]
rs12974420	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12976536	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12977563	0.85[ASN][1000 genomes]
rs12980267	0.82[ASN][1000 genomes]
rs12980298	0.86[EUR][1000 genomes]
rs12980480	0.86[EUR][1000 genomes]
rs12980942	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12981053	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12983047	0.86[EUR][1000 genomes]
rs12983339	0.86[ASN][1000 genomes]
rs12984160	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12985162	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12985339	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16958994	0.95[EUR][1000 genomes]
rs16958996	0.95[EUR][1000 genomes]
rs16958999	0.95[EUR][1000 genomes]
rs1865051	0.95[EUR][1000 genomes]
rs1865052	0.95[EUR][1000 genomes]
rs1865053	0.92[EUR][1000 genomes]
rs1946612	0.86[ASN][1000 genomes]
rs1946613	0.88[ASN][1000 genomes]
rs2053086	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241718	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241719	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241720	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304230	0.86[EUR][1000 genomes]
rs2304231	0.85[ASN][1000 genomes]
rs2304232	0.85[ASN][1000 genomes]
rs34075897	0.98[EUR][1000 genomes]
rs34322801	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34945449	0.95[EUR][1000 genomes]
rs35501756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35812313	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3745295	0.86[EUR][1000 genomes]
rs3752705	0.86[EUR][1000 genomes]
rs3760659	0.86[ASN][1000 genomes]
rs3760660	0.88[ASN][1000 genomes]
rs3816052	0.86[EUR][1000 genomes]
rs3826714	0.95[EUR][1000 genomes]
rs4456618	0.92[EUR][1000 genomes]
rs4591267	0.85[ASN][1000 genomes]
rs61459202	0.97[ASN][1000 genomes]
rs66724427	0.86[EUR][1000 genomes]
rs67511749	0.94[EUR][1000 genomes]
rs67744888	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957	0.98[EUR][1000 genomes]
rs7245398	0.92[EUR][1000 genomes]
rs7248164	0.86[EUR][1000 genomes]
rs7250883	0.82[ASN][1000 genomes]
rs7256416	0.86[EUR][1000 genomes]
rs7256856	0.86[EUR][1000 genomes]
rs7257310	0.98[EUR][1000 genomes]
rs7257742	0.98[EUR][1000 genomes]
rs7257825	0.86[EUR][1000 genomes]
rs7258749	0.86[EUR][1000 genomes]
rs8103839	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8105161	0.83[EUR][1000 genomes]
rs8105901	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8109167	0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911769	chr19:41813676-41845801	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41818200-41831600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:41818400-41831200	Strong transcription	Thymus	Thymus
3	chr19:41818600-41854800	Strong transcription	Dnd41	blood
4	chr19:41823200-41832000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:41823400-41832200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:41824400-41834000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:41827000-41832800	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr19:41827200-41832000	Enhancers	NHDF-Ad	bronchial
9	chr19:41827400-41831200	Weak transcription	Aorta	Aorta
10	chr19:41827400-41831200	Enhancers	Left Ventricle	heart
11	chr19:41827400-41833000	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:41827400-41833000	Genic enhancers	Fetal Thymus	thymus
13	chr19:41827600-41831800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr19:41827800-41832200	Enhancers	Stomach Mucosa	stomach
15	chr19:41828000-41832000	Enhancers	Duodenum Mucosa	Duodenum
16	chr19:41828200-41831200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:41828400-41832200	Enhancers	Liver	Liver
18	chr19:41828600-41831200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:41828600-41831200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr19:41828600-41832200	Enhancers	Primary B cells from cord blood	blood
21	chr19:41828600-41834000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr19:41828800-41831200	Enhancers	Colon Smooth Muscle	Colon
23	chr19:41828800-41831600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:41828800-41832400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:41828800-41834000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:41828800-41834400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:41829000-41831200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:41829000-41831200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr19:41829200-41831600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:41829200-41832200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:41829200-41835400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:41829400-41831200	Enhancers	Adipose Nuclei	Adipose
33	chr19:41829400-41831200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr19:41829400-41831600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:41829400-41831600	Enhancers	HUVEC	blood vessel
36	chr19:41829400-41832000	Enhancers	HSMMtube	muscle
37	chr19:41829600-41831200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:41829600-41831800	Enhancers	Gastric	stomach
39	chr19:41829600-41832200	Weak transcription	Hela-S3	cervix
40	chr19:41829600-41833000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:41829800-41832000	Enhancers	Esophagus	oesophagus
42	chr19:41829800-41832200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:41830000-41831800	Enhancers	Colonic Mucosa	Colon
44	chr19:41830000-41831800	Enhancers	Lung	lung
45	chr19:41830000-41832000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:41830000-41832000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr19:41830000-41832000	Enhancers	Placenta	Placenta
48	chr19:41830000-41832200	Enhancers	GM12878-XiMat	blood
49	chr19:41830000-41832600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:41830000-41833000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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