Variant report

Variant	rs4803449
Chromosome Location	chr19:41734666-41734667
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	chr19:41730763..41733652-chr19:41734170..41736394,3	K562	blood:
2	chr19:41733057..41734716-chr19:41742855..41744985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167601	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10421990	0.90[CHB][hapmap]
rs11879562	0.90[CHB][hapmap]
rs11882467	0.85[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap]
rs12327659	0.90[CHB][hapmap]
rs12462203	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.97[ASN][1000 genomes]
rs12975585	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs12978098	1.00[ASN][1000 genomes]
rs12978323	0.85[CHB][hapmap]
rs12979764	0.98[ASN][1000 genomes]
rs12980248	1.00[ASN][1000 genomes]
rs12980480	0.90[CHB][hapmap]
rs12983047	0.85[CHB][hapmap]
rs12984621	0.96[ASN][1000 genomes]
rs1865051	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1865053	0.90[CHB][hapmap]
rs2304230	0.90[CHB][hapmap]
rs2304234	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs3745295	0.90[CHB][hapmap]
rs3752705	0.90[CHB][hapmap]
rs3816052	0.90[CHB][hapmap]
rs3826714	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4456618	0.90[CHB][hapmap]
rs4802111	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[ASN][1000 genomes]
rs4802112	0.80[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4802113	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs4803448	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs6508974	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[ASN][1000 genomes]
rs67033402	0.96[ASN][1000 genomes]
rs6957	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs7245398	0.90[CHB][hapmap]
rs7246525	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[ASN][1000 genomes]
rs7248164	0.90[CHB][hapmap]
rs7257310	0.85[CHB][hapmap]
rs7258749	0.90[CHB][hapmap]
rs8109167	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs8109627	0.85[CHB][hapmap];0.89[JPT][hapmap]

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	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3452160	chr19:41734412-41737910	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3353863	chr19:41734412-41738010	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41730200-41762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41732600-41768800	Weak transcription	Small Intestine	intestine
3	chr19:41732800-41735800	Weak transcription	Fetal Lung	lung
4	chr19:41732800-41736200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41732800-41739200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:41732800-41742800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:41732800-41745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:41733000-41735400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:41733000-41735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:41733000-41735600	Weak transcription	Fetal Kidney	kidney
11	chr19:41733000-41736000	Weak transcription	Lung	lung
12	chr19:41733000-41736000	Genic enhancers	NHDF-Ad	bronchial
13	chr19:41733000-41736200	Weak transcription	Pancreas	Pancrea
14	chr19:41733000-41736400	Weak transcription	Brain Angular Gyrus	brain
15	chr19:41733000-41736400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:41733000-41736600	Weak transcription	Aorta	Aorta
17	chr19:41733000-41736600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:41733000-41736600	Weak transcription	Fetal Stomach	stomach
19	chr19:41733000-41738600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:41733000-41739200	Weak transcription	Placenta	Placenta
21	chr19:41733000-41739400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:41733000-41739400	Weak transcription	Ovary	ovary
23	chr19:41733000-41740200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:41733000-41743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:41733000-41743200	Weak transcription	Right Ventricle	heart
26	chr19:41733000-41743600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:41733000-41743600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:41733000-41743600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:41733000-41743600	Weak transcription	Esophagus	oesophagus
30	chr19:41733000-41743600	Weak transcription	Spleen	Spleen
31	chr19:41733000-41743800	Weak transcription	Colonic Mucosa	Colon
32	chr19:41733000-41744200	Weak transcription	Gastric	stomach
33	chr19:41733000-41745200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:41733200-41735000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:41733200-41735000	Strong transcription	NHEK	skin
36	chr19:41733200-41735600	Strong transcription	HSMM	muscle
37	chr19:41733200-41735600	Strong transcription	Osteobl	bone
38	chr19:41733200-41736200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:41733200-41736600	Genic enhancers	A549	lung
40	chr19:41733200-41738000	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:41733200-41738800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:41733200-41739400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:41733200-41739400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:41733200-41739600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:41733200-41740600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:41733200-41741400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:41733200-41745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr19:41733200-41746000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:41733200-41749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:41733200-41767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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