Variant report

Variant	rs28730632
Chromosome Location	chr4:99995703-99995704
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99994782..99998481-chr4:100008355..100010980,3	MCF-7	breast:
2	chr4:99995208..99997338-chr4:99999621..100002646,3	K562	blood:
3	chr4:99985895..99987706-chr4:99994039..99996345,2	K562	blood:
4	chr4:99994512..99996565-chr4:99998521..100000129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246090	Chromatin interaction
ENSG00000197894	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1154400	0.81[AFR][1000 genomes]
rs11547772	0.82[AMR][1000 genomes]
rs12106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1230155	0.88[AFR][1000 genomes]
rs12502237	0.80[AFR][1000 genomes]
rs12697	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28730602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658118	0.82[AMR][1000 genomes]
rs7658279	0.82[AMR][1000 genomes]
rs7669660	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7683704	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7684735	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28730632	ADH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99954000-99999200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:99959800-100000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:99971800-99997600	Weak transcription	Spleen	Spleen
4	chr4:99977400-99996600	Weak transcription	Brain Angular Gyrus	brain
5	chr4:99977400-99996800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:99977400-99997000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:99977600-100008400	Weak transcription	Stomach Mucosa	stomach
8	chr4:99977800-100009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:99978000-100007800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:99980000-99997000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:99981200-99997000	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:99982400-99997000	Weak transcription	Hela-S3	cervix
13	chr4:99982400-100000400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:99982600-99996000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:99982800-99996000	Weak transcription	Gastric	stomach
16	chr4:99982800-100000200	Weak transcription	Psoas Muscle	Psoas
17	chr4:99983000-100004600	Weak transcription	Pancreas	Pancrea
18	chr4:99983200-100000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:99983200-100008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:99983600-100003400	Weak transcription	Right Ventricle	heart
21	chr4:99984400-99996600	Weak transcription	A549	lung
22	chr4:99985600-100005200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:99985600-100006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:99987200-100005000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:99987200-100005400	Strong transcription	Dnd41	blood
26	chr4:99987200-100006600	Strong transcription	HSMM	muscle
27	chr4:99987200-100008000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:99987400-100007600	Strong transcription	Fetal Thymus	thymus
29	chr4:99987600-100006000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:99987600-100006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:99987800-99995800	Strong transcription	Adipose Nuclei	Adipose
32	chr4:99987800-100001000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:99987800-100006800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:99987800-100007000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:99988000-100006800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:99988000-100007000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:99988200-100006400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:99988400-100007000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:99988800-100001800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:99989000-100006600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr4:99989000-100006800	Strong transcription	Primary T cells from cord blood	blood
42	chr4:99989400-100007400	Strong transcription	HMEC	breast
43	chr4:99989600-100007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:99989800-99999200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:99990000-100005000	Strong transcription	Placenta	Placenta
46	chr4:99990400-100005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:99990400-100006400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:99990600-99999800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:99990600-100007200	Strong transcription	Osteobl	bone
50	chr4:99990600-100007400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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