Variant report

Variant	rs17023950
Chromosome Location	chr4:148756347-148756348
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	chr4:148652681..148655343-chr4:148756285..148758704,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10012122	1.00[EUR][1000 genomes]
rs10213616	1.00[EUR][1000 genomes]
rs1436492	1.00[EUR][1000 genomes]
rs17023827	1.00[EUR][1000 genomes]
rs17023959	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17024108	1.00[EUR][1000 genomes]
rs17024163	1.00[EUR][1000 genomes]
rs41435251	1.00[EUR][1000 genomes]
rs55689306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56742479	1.00[EUR][1000 genomes]
rs58776118	1.00[EUR][1000 genomes]
rs59129054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59222333	1.00[EUR][1000 genomes]
rs59845678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6813344	1.00[EUR][1000 genomes]
rs6815620	1.00[EUR][1000 genomes]
rs6848211	1.00[EUR][1000 genomes]
rs72957764	1.00[EUR][1000 genomes]
rs72957767	1.00[EUR][1000 genomes]
rs72957792	1.00[EUR][1000 genomes]
rs731989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853711	1.00[EUR][1000 genomes]
rs7661589	1.00[EUR][1000 genomes]
rs7663257	1.00[EUR][1000 genomes]
rs7699281	1.00[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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148734600-148761000	Weak transcription	Fetal Kidney	kidney
2	chr4:148737200-148758200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:148737800-148757000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
5	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:148746400-148768000	Weak transcription	Fetal Intestine Small	intestine
7	chr4:148749400-148758000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:148751400-148757200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:148751400-148776000	Weak transcription	Fetal Stomach	stomach
10	chr4:148752400-148761200	Weak transcription	Psoas Muscle	Psoas
11	chr4:148753200-148756400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:148753200-148763600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:148753200-148765800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:148753200-148767800	Weak transcription	Small Intestine	intestine
15	chr4:148753400-148756400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:148753400-148756600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:148753400-148757200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:148753400-148757200	Weak transcription	Osteobl	bone
19	chr4:148753400-148757600	Weak transcription	Fetal Heart	heart
20	chr4:148753400-148758600	Weak transcription	Ovary	ovary
21	chr4:148753400-148760400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:148753400-148760800	Weak transcription	Aorta	Aorta
23	chr4:148753400-148760800	Weak transcription	NH-A	brain
24	chr4:148753400-148765800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:148753400-148782000	Weak transcription	Gastric	stomach
26	chr4:148753600-148756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:148753600-148756400	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:148753600-148760400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:148753800-148757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:148753800-148757000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:148753800-148761200	Weak transcription	Right Atrium	heart
32	chr4:148754000-148766200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:148754200-148756600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:148754400-148762200	Weak transcription	HUVEC	blood vessel
35	chr4:148754400-148769000	Weak transcription	NHLF	lung
36	chr4:148754600-148764000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:148754800-148756400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:148754800-148763600	Weak transcription	HMEC	breast
39	chr4:148755200-148756600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:148755200-148757200	Weak transcription	GM12878-XiMat	blood
41	chr4:148755200-148761200	Weak transcription	Right Ventricle	heart
42	chr4:148755200-148763000	Weak transcription	Left Ventricle	heart
43	chr4:148755200-148763200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:148755400-148756400	Weak transcription	HSMM	muscle
45	chr4:148755600-148756400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:148755600-148756400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:148755600-148773200	Weak transcription	Esophagus	oesophagus
48	chr4:148755800-148756400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr4:148755800-148756400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:148755800-148756800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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