Variant report

Variant	rs7701630
Chromosome Location	chr5:112435282-112435283
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	chr5:112434757..112437431-chr5:112437818..112439557,2	K562	blood:
2	chr5:112428968..112430788-chr5:112433593..112437336,4	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10038215	1.00[ASN][1000 genomes]
rs10041206	1.00[ASN][1000 genomes]
rs10060897	1.00[ASN][1000 genomes]
rs10074230	1.00[ASN][1000 genomes]
rs10076739	1.00[ASN][1000 genomes]
rs10078365	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356288	1.00[ASN][1000 genomes]
rs28513913	1.00[ASN][1000 genomes]
rs28561975	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56783601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58202991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865450	0.86[AFR][1000 genomes]
rs6894919	1.00[ASN][1000 genomes]
rs7708596	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734300	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326876	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:112391600-112439000	Weak transcription	Gastric	stomach
3	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
5	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:112417800-112436800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:112418400-112441600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:112418600-112436600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:112418600-112441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112419600-112436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:112420800-112436800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:112421000-112437000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:112421000-112439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:112421400-112437200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:112424200-112435600	Weak transcription	Small Intestine	intestine
16	chr5:112424400-112448000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:112426000-112441600	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:112426200-112437400	Weak transcription	Aorta	Aorta
19	chr5:112426200-112445000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:112426600-112435600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:112426600-112453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:112426800-112435400	Weak transcription	Fetal Lung	lung
23	chr5:112426800-112450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:112426800-112450600	Weak transcription	Primary T cells from cord blood	blood
25	chr5:112426800-112450600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:112426800-112453800	Weak transcription	HSMMtube	muscle
27	chr5:112427000-112440800	Weak transcription	NH-A	brain
28	chr5:112427000-112453800	Weak transcription	Fetal Kidney	kidney
29	chr5:112427200-112448200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:112427600-112435600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:112427600-112441600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:112427600-112442000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:112427600-112443200	Weak transcription	Brain Substantia Nigra	brain
34	chr5:112428000-112440200	Strong transcription	Liver	Liver
35	chr5:112428400-112440200	Strong transcription	Fetal Stomach	stomach
36	chr5:112428600-112445000	Weak transcription	Placenta	Placenta
37	chr5:112429200-112435400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:112429800-112437400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:112430400-112441000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:112431000-112436800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:112431000-112439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:112431000-112440000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:112431000-112442600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:112431600-112435400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:112431600-112440200	Strong transcription	Ovary	ovary
47	chr5:112432200-112437400	Weak transcription	Right Atrium	heart
48	chr5:112432200-112443200	Weak transcription	Lung	lung
49	chr5:112432200-112450200	Weak transcription	Spleen	Spleen
50	chr5:112432200-112454600	Weak transcription	Pancreas	Pancrea

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