Variant report

Variant	rs4808949
Chromosome Location	chr19:19486417-19486418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19485925..19490752-chr19:19494037..19501324,14	MCF-7	breast:
2	chr19:19485841..19488416-chr19:19504636..19506140,2	K562	blood:
3	chr19:19485973..19488912-chr19:19599291..19601456,3	MCF-7	breast:
4	chr19:19484073..19490340-chr19:19494015..19501154,14	MCF-7	breast:
5	chr19:19483095..19487397-chr19:19491404..19494790,5	K562	blood:
6	chr19:19486238..19488843-chr19:19600330..19602869,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1054308	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12462698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12463074	0.85[AMR][1000 genomes]
rs12971734	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2033481	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301785	0.85[AMR][1000 genomes]
rs34183201	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34351431	0.85[AMR][1000 genomes]
rs34539063	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35156688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36113815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4539728	0.85[AMR][1000 genomes]
rs4808201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4808943	0.85[AMR][1000 genomes]
rs4808963	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7256550	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7257931	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs74181134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74181137	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74182632	0.85[AMR][1000 genomes]
rs74182635	0.85[AMR][1000 genomes]
rs74182637	0.85[AMR][1000 genomes]
rs74182638	0.85[AMR][1000 genomes]
rs74182639	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7508358	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7508458	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19469800-19488400	Weak transcription	Gastric	stomach
2	chr19:19475800-19488000	Weak transcription	Small Intestine	intestine
3	chr19:19476200-19488200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:19476200-19488400	Weak transcription	Right Atrium	heart
5	chr19:19477800-19488400	Weak transcription	Fetal Muscle Leg	muscle
6	chr19:19477800-19488600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:19477800-19488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:19478000-19488000	Weak transcription	Pancreas	Pancrea
9	chr19:19478000-19488200	Weak transcription	Spleen	Spleen
10	chr19:19478000-19488600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr19:19478800-19495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:19482200-19488200	Weak transcription	Right Ventricle	heart
13	chr19:19482200-19488200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:19482200-19488400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:19482400-19488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:19482600-19493200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr19:19483800-19488200	Weak transcription	Left Ventricle	heart
18	chr19:19484000-19488200	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:19484000-19488200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:19484000-19488200	Weak transcription	Fetal Intestine Large	intestine
21	chr19:19484000-19488400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:19484000-19488400	Weak transcription	HSMMtube	muscle
23	chr19:19484000-19488400	Weak transcription	NHDF-Ad	bronchial
24	chr19:19484000-19488400	Weak transcription	Osteobl	bone
25	chr19:19484000-19488600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:19484200-19488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:19484200-19488200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:19484200-19488400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:19484200-19488400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:19484200-19488400	Weak transcription	Fetal Intestine Small	intestine
31	chr19:19484200-19488400	Weak transcription	A549	lung
32	chr19:19484200-19489000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr19:19484400-19488000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:19484400-19488200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:19484400-19488200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:19484400-19488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:19484400-19488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:19484400-19488600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:19484400-19488600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:19484400-19488600	Weak transcription	HUVEC	blood vessel
41	chr19:19484600-19488000	Weak transcription	Colonic Mucosa	Colon
42	chr19:19484600-19488400	Weak transcription	Adipose Nuclei	Adipose
43	chr19:19484600-19488600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr19:19484800-19488000	Weak transcription	Lung	lung
45	chr19:19485600-19486800	Enhancers	HepG2	liver
46	chr19:19485800-19487800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:19485800-19488400	Enhancers	Placenta	Placenta
48	chr19:19486000-19488000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr19:19486000-19488200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:19486000-19488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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