Variant report

Variant	rs337780
Chromosome Location	chr19:40576729-40576730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40570661..40573869-chr19:40576488..40578781,3	K562	blood:
2	chr19:40574294..40577886-chr19:40578085..40580406,4	K562	blood:
3	chr19:40574588..40577442-chr19:40589363..40592016,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1327185	0.86[JPT][hapmap]
rs1327193	0.86[JPT][hapmap]
rs13344062	0.80[ASN][1000 genomes]
rs163213	0.85[ASN][1000 genomes]
rs170900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17797100	0.88[JPT][hapmap]
rs186815	0.80[ASN][1000 genomes]
rs2231738	0.83[CEU][hapmap]
rs234303	0.80[ASN][1000 genomes]
rs234340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs234352	0.80[ASN][1000 genomes]
rs234356	0.80[ASN][1000 genomes]
rs234365	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs24135	0.88[JPT][hapmap]
rs24136	0.86[JPT][hapmap]
rs24137	0.88[JPT][hapmap]
rs2569640	0.88[JPT][hapmap]
rs2569641	0.88[JPT][hapmap]
rs2569650	0.86[JPT][hapmap]
rs2767604	0.86[JPT][hapmap]
rs2767607	0.86[JPT][hapmap]
rs2915972	0.86[JPT][hapmap]
rs3000956	0.85[ASN][1000 genomes]
rs337779	0.85[ASN][1000 genomes]
rs337782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337784	0.88[JPT][hapmap]
rs337785	0.82[JPT][hapmap]
rs337786	0.88[JPT][hapmap]
rs337787	0.88[JPT][hapmap]
rs337789	0.86[JPT][hapmap]
rs337792	0.86[JPT][hapmap]
rs337793	0.88[JPT][hapmap]
rs337798	0.82[ASN][1000 genomes]
rs337799	0.82[ASN][1000 genomes]
rs337800	0.81[ASN][1000 genomes]
rs337801	0.85[ASN][1000 genomes]
rs3826919	0.83[CEU][hapmap]
rs416283	0.85[ASN][1000 genomes]
rs420579	0.85[ASN][1000 genomes]
rs421533	0.85[ASN][1000 genomes]
rs424365	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs426950	0.85[ASN][1000 genomes]
rs427461	1.00[CEU][hapmap]
rs459091	0.85[ASN][1000 genomes]
rs55798334	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59030876	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7249286	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8106032	0.86[JPT][hapmap]
rs8106269	0.83[CEU][hapmap]
rs8108793	0.85[ASN][1000 genomes]
rs9783938	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40562600-40579200	Weak transcription	Left Ventricle	heart
2	chr19:40562600-40579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:40566000-40580000	Weak transcription	Fetal Heart	heart
4	chr19:40570600-40579800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:40571800-40578600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:40571800-40578800	Weak transcription	Brain Germinal Matrix	brain
7	chr19:40571800-40579200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:40571800-40579600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:40572400-40578600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:40572400-40578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:40572400-40578800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:40572400-40579600	Weak transcription	Ovary	ovary
13	chr19:40572400-40580000	Weak transcription	Lung	lung
14	chr19:40572400-40580000	Weak transcription	Pancreas	Pancrea
15	chr19:40572800-40579200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:40572800-40579200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:40573000-40579200	Weak transcription	Fetal Brain Female	brain
18	chr19:40573000-40579200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:40573000-40579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:40573000-40580000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:40573400-40579200	Weak transcription	Fetal Kidney	kidney
22	chr19:40573600-40579000	Weak transcription	HSMM	muscle
23	chr19:40573800-40580000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:40574000-40579400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:40574000-40580000	Weak transcription	Right Ventricle	heart
26	chr19:40574400-40578600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:40574400-40580000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:40574400-40582400	Weak transcription	Fetal Stomach	stomach
29	chr19:40574800-40578600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:40574800-40579200	Weak transcription	Primary B cells from cord blood	blood
31	chr19:40574800-40579200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:40574800-40580000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:40575200-40578800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:40575200-40579200	Weak transcription	Fetal Muscle Leg	muscle
35	chr19:40575200-40579600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:40575200-40580000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:40575400-40578600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:40575400-40579000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr19:40575400-40580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:40575600-40578600	Weak transcription	Liver	Liver
41	chr19:40575600-40579800	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:40575800-40578600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:40575800-40578800	Weak transcription	Dnd41	blood
44	chr19:40575800-40579800	Weak transcription	Small Intestine	intestine
45	chr19:40576200-40579000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:40576600-40577000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:40576600-40577000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:40576600-40579400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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