Variant report

Variant	rs774982
Chromosome Location	chr4:95410364-95410365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95372926..95375393-chr4:95409110..95411441,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1493109	0.86[CEU][hapmap]
rs17378777	0.88[CEU][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1820475	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2011525	0.81[EUR][1000 genomes]
rs2433320	0.88[CEU][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2433322	0.88[CEU][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2433323	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2433326	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2438140	0.84[CEU][hapmap]
rs2438146	0.88[CEU][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2438147	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2438148	0.83[EUR][1000 genomes]
rs2452553	0.81[AMR][1000 genomes]
rs2510762	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2510763	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2510765	0.87[EUR][1000 genomes]
rs2555215	0.87[CEU][hapmap]
rs28697067	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34570027	0.85[EUR][1000 genomes]
rs6812165	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs774984	0.88[CEU][hapmap]
rs9990678	0.82[AMR][1000 genomes];0.84[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:95394400-95419200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95394400-95428000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:95396600-95419000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:95398400-95428400	Weak transcription	Small Intestine	intestine
7	chr4:95400400-95415200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:95400800-95440000	Weak transcription	Lung	lung
9	chr4:95401800-95420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:95402000-95416800	Weak transcription	Pancreas	Pancrea
11	chr4:95402200-95412000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:95402200-95412200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:95402200-95412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:95403000-95416600	Weak transcription	Left Ventricle	heart
15	chr4:95403800-95417800	Weak transcription	HepG2	liver
16	chr4:95404000-95415000	Weak transcription	Fetal Intestine Small	intestine
17	chr4:95404400-95412200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:95405000-95429000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:95406000-95419800	Weak transcription	GM12878-XiMat	blood
20	chr4:95406200-95410600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:95406400-95411800	Weak transcription	HSMM	muscle
22	chr4:95407200-95410600	Enhancers	Fetal Heart	heart
23	chr4:95407200-95428000	Weak transcription	Placenta	Placenta
24	chr4:95408000-95410400	Enhancers	Psoas Muscle	Psoas
25	chr4:95408000-95412200	Weak transcription	Right Ventricle	heart
26	chr4:95408000-95412600	Weak transcription	Stomach Mucosa	stomach
27	chr4:95408000-95428000	Weak transcription	K562	blood
28	chr4:95408200-95422000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:95408400-95410600	Enhancers	Hela-S3	cervix
30	chr4:95408600-95411000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:95409000-95410400	Enhancers	NH-A	brain
32	chr4:95409000-95410600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:95409000-95410600	Enhancers	NHDF-Ad	bronchial
34	chr4:95409000-95412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:95409000-95422000	Weak transcription	Ovary	ovary
36	chr4:95409200-95410400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:95409200-95410600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:95409200-95411600	Weak transcription	Liver	Liver
39	chr4:95409400-95410400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:95409400-95410600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:95409400-95412200	Enhancers	HUVEC	blood vessel
42	chr4:95409400-95419000	Weak transcription	Aorta	Aorta
43	chr4:95409800-95410400	Enhancers	Colon Smooth Muscle	Colon
44	chr4:95409800-95410600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:95409800-95410600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:95409800-95410600	Enhancers	Rectal Smooth Muscle	rectum
47	chr4:95409800-95410600	Flanking Active TSS	A549	lung
48	chr4:95409800-95412200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:95409800-95412200	Enhancers	Osteobl	bone
50	chr4:95410000-95410600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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