Variant report

Variant	rs28635613
Chromosome Location	chr4:99487844-99487845
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	chr4:99485403..99488335-chr4:99490236..99493906,4	MCF-7	breast:
2	chr4:99483863..99486365-chr4:99487741..99490347,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10000857	0.93[EUR][1000 genomes]
rs10001528	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10005706	0.97[EUR][1000 genomes]
rs10007752	0.93[EUR][1000 genomes]
rs10010485	0.87[EUR][1000 genomes]
rs10030396	0.87[EUR][1000 genomes]
rs10031904	0.93[EUR][1000 genomes]
rs17027682	0.87[EUR][1000 genomes]
rs17027707	0.90[EUR][1000 genomes]
rs17027752	0.81[AFR][1000 genomes]
rs17027758	0.97[EUR][1000 genomes]
rs1919212	0.87[EUR][1000 genomes]
rs28372028	0.83[EUR][1000 genomes]
rs28445981	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28502504	0.87[EUR][1000 genomes]
rs28504661	0.87[EUR][1000 genomes]
rs28532945	0.83[EUR][1000 genomes]
rs28576181	0.93[EUR][1000 genomes]
rs28648419	0.87[EUR][1000 genomes]
rs28696298	0.83[EUR][1000 genomes]
rs28712025	0.87[EUR][1000 genomes]
rs28758777	0.87[EUR][1000 genomes]
rs72902292	0.87[EUR][1000 genomes]
rs9990571	0.87[EUR][1000 genomes]
rs9991086	0.87[EUR][1000 genomes]
rs9993039	1.00[AMR][1000 genomes];0.97[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	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99479000-99490200	Weak transcription	HSMMtube	muscle
3	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
4	chr4:99483200-99495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:99484200-99495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:99485000-99490800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
9	chr4:99485400-99488000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:99485400-99491000	Enhancers	Fetal Brain Male	brain
11	chr4:99485400-99495000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:99485600-99488000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:99485600-99488200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:99485600-99488400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:99485600-99489200	Enhancers	Fetal Heart	heart
16	chr4:99485800-99488000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:99485800-99488400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:99486000-99488000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:99486000-99488000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:99486000-99488200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:99486000-99488200	Enhancers	Fetal Brain Female	brain
22	chr4:99486000-99488400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:99486000-99488400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:99486000-99488400	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:99486000-99488800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:99486000-99489000	Enhancers	Ovary	ovary
27	chr4:99486000-99489200	Enhancers	Fetal Thymus	thymus
28	chr4:99486000-99491000	Enhancers	Thymus	Thymus
29	chr4:99486000-99491400	Enhancers	Fetal Muscle Leg	muscle
30	chr4:99486200-99488200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:99486600-99488600	Enhancers	Fetal Stomach	stomach
32	chr4:99486800-99488200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:99486800-99488200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:99486800-99488200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr4:99486800-99488200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:99486800-99488200	Enhancers	Placenta	Placenta
37	chr4:99486800-99488200	Enhancers	Lung	lung
38	chr4:99486800-99488200	Enhancers	Right Ventricle	heart
39	chr4:99486800-99488200	Enhancers	Stomach Smooth Muscle	stomach
40	chr4:99486800-99488200	Enhancers	Spleen	Spleen
41	chr4:99486800-99488200	Enhancers	HSMM	muscle
42	chr4:99486800-99488400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:99486800-99488400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:99486800-99488400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:99486800-99488400	Enhancers	Fetal Lung	lung
46	chr4:99486800-99488400	Enhancers	Left Ventricle	heart
47	chr4:99487000-99488000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:99487000-99488000	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr4:99487000-99488200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:99487000-99488400	Flanking Active TSS	Brain Hippocampus Middle	brain

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