Variant report

Variant	rs7684735
Chromosome Location	chr4:99991506-99991507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:99991388-99991607	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:99990671-99991982	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:99990842-99991699	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:99990644-99991932	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:99987204-99993723	K562	blood:	n/a	n/a
6	POLR2A	chr4:99991160-99991539	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:99991368-99991680	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr4:99990563-99991799	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:99991193-99991520	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:99991387-99991966	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:99991497-99991531	ProgFib	skin:	n/a	n/a
12	POLR2A	chr4:99991256-99991706	K562	blood:	n/a	n/a
13	POLR2A	chr4:99990712-99991508	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99914968..99916800-chr4:99989851..99992126,2	MCF-7	breast:
2	chr4:99990201..99991770-chr4:100003753..100006415,2	K562	blood:
3	chr4:99923798..99925569-chr4:99990662..99993574,2	K562	blood:
4	chr4:99984530..99987339-chr4:99990898..99992743,2	K562	blood:
5	chr4:99849436..99851753-chr4:99986729..99991688,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272777	TF binding region
ENSG00000197894	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12106	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1230155	0.94[AFR][1000 genomes]
rs12697	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28730602	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28730632	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699700	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7669660	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7683704	0.92[AFR][1000 genomes];0.83[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7684735	ADH5	cis	brain	BrainEAC
rs7684735	ADH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr4:99956200-99995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:99959800-100000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:99971800-99991600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:99971800-99997600	Weak transcription	Spleen	Spleen
6	chr4:99974000-99993000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:99976400-99992800	Weak transcription	Aorta	Aorta
8	chr4:99977200-99994400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:99977400-99991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:99977400-99992800	Weak transcription	Brain Substantia Nigra	brain
11	chr4:99977400-99994800	Weak transcription	Right Atrium	heart
12	chr4:99977400-99996600	Weak transcription	Brain Angular Gyrus	brain
13	chr4:99977400-99996800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:99977400-99997000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:99977600-100008400	Weak transcription	Stomach Mucosa	stomach
16	chr4:99977800-100009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:99978000-100007800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:99979800-99992800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:99979800-99994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:99980000-99992600	Weak transcription	Colonic Mucosa	Colon
21	chr4:99980000-99993000	Weak transcription	Ovary	ovary
22	chr4:99980000-99995000	Weak transcription	Small Intestine	intestine
23	chr4:99980000-99997000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:99980200-99993000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:99981000-99992400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:99981200-99992400	Weak transcription	Brain Germinal Matrix	brain
27	chr4:99981200-99997000	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:99982400-99995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:99982400-99997000	Weak transcription	Hela-S3	cervix
30	chr4:99982400-100000400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:99982600-99991600	Weak transcription	NHLF	lung
32	chr4:99982600-99992000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:99982600-99992400	Weak transcription	NHEK	skin
34	chr4:99982600-99992600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:99982600-99996000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:99982800-99993000	Weak transcription	Left Ventricle	heart
37	chr4:99982800-99996000	Weak transcription	Gastric	stomach
38	chr4:99982800-100000200	Weak transcription	Psoas Muscle	Psoas
39	chr4:99983000-99991600	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:99983000-100004600	Weak transcription	Pancreas	Pancrea
41	chr4:99983200-99992400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:99983200-99992800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:99983200-100000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:99983200-100008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:99983400-99992800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:99983400-99993000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:99983600-99991600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:99983600-99992200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:99983600-99992200	Weak transcription	NH-A	brain
50	chr4:99983600-99992400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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