Variant report

Variant	rs9995173
Chromosome Location	chr4:47464128-47464129
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	chr4:47447254..47449925-chr4:47463916..47465485,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10010080	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10012665	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10013564	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016116	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016711	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10017635	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10020234	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10020578	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10023931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10024088	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10025348	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028747	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031409	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032089	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28401446	1.00[AMR][1000 genomes]
rs28419082	0.89[AMR][1000 genomes]
rs28420192	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28437469	0.86[AFR][1000 genomes]
rs28463624	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28589311	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28657923	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687404	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4408937	0.80[AFR][1000 genomes]
rs55734368	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56318530	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57637672	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57663033	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58111381	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58467459	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58773051	1.00[AMR][1000 genomes]
rs60201780	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60226159	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60707722	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60744249	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60950802	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60981397	0.89[AMR][1000 genomes]
rs61111807	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6812797	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6849185	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73813534	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73813544	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813545	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73813546	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7656397	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7660975	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7664395	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7664827	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7665847	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7669793	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7681754	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682167	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7686306	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7695644	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9990574	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9998398	0.91[AFR][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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436800-47465000	Weak transcription	Gastric	stomach
2	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine
3	chr4:47445400-47465000	Weak transcription	Lung	lung
4	chr4:47445600-47464200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:47445600-47464200	Weak transcription	Thymus	Thymus
6	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
7	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus
8	chr4:47449600-47464200	Weak transcription	Fetal Brain Male	brain
9	chr4:47449800-47465000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:47450600-47464400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:47450600-47464600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:47450600-47464800	Weak transcription	Colonic Mucosa	Colon
13	chr4:47450600-47464800	Weak transcription	A549	lung
14	chr4:47451000-47464400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:47451800-47464600	Weak transcription	Hela-S3	cervix
16	chr4:47452000-47464600	Weak transcription	K562	blood
17	chr4:47452400-47464800	Weak transcription	Right Ventricle	heart
18	chr4:47452400-47465000	Weak transcription	Psoas Muscle	Psoas
19	chr4:47452600-47464400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:47452600-47465200	Weak transcription	Spleen	Spleen
21	chr4:47453800-47464200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:47453800-47464800	Weak transcription	HSMMtube	muscle
23	chr4:47454000-47465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:47454200-47464600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:47454200-47464800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:47454200-47465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:47454600-47464800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:47454600-47465000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:47455200-47464400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:47455600-47464600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:47455600-47465000	Weak transcription	Ovary	ovary
32	chr4:47456000-47464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:47456400-47464600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:47456600-47464400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:47456600-47464600	Weak transcription	Placenta	Placenta
36	chr4:47456800-47464600	Weak transcription	Fetal Kidney	kidney
37	chr4:47456800-47464800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:47457200-47464200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:47457200-47464400	Weak transcription	Primary T cells from cord blood	blood
40	chr4:47457600-47464600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:47458000-47464200	Weak transcription	NHEK	skin
42	chr4:47458000-47464600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:47458200-47464200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:47458200-47464200	Weak transcription	Adipose Nuclei	Adipose
45	chr4:47458200-47464400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:47458200-47464400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:47458200-47464600	Weak transcription	Fetal Intestine Small	intestine
48	chr4:47458200-47464600	Weak transcription	Fetal Stomach	stomach
49	chr4:47458200-47464800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:47458200-47464800	Weak transcription	Fetal Muscle Leg	muscle

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