Variant report

Variant	rs62323237
Chromosome Location	chr4:99916341-99916342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr4:99916263-99917563	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr4:99916104-99917373	K562	blood:	n/a	chr4:99917075-99917084 chr4:99916508-99916521 chr4:99917169-99917182 chr4:99916506-99916522
3	ZNF384	chr4:99916080-99917046	K562	blood:	n/a	n/a
4	ZC3H11A	chr4:99916272-99916586	K562	blood:	n/a	n/a
5	CTCF	chr4:99916225-99916676	GM19238	blood:	n/a	chr4:99916508-99916521 chr4:99916506-99916522
6	CTCF	chr4:99916282-99916656	HepG2	liver:	n/a	chr4:99916508-99916521 chr4:99916506-99916522
7	PAX5	chr4:99916122-99916652	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:99916179-99916626	K562	blood:	n/a	n/a
9	POLR2A	chr4:99916257-99917337	MCF-7	breast:	n/a	n/a
10	PAX5	chr4:99916337-99917146	GM12892	blood:	n/a	n/a
11	CTCF	chr4:99916239-99916663	GM19239	blood:	n/a	chr4:99916508-99916521 chr4:99916506-99916522
12	CTCF	chr4:99916243-99916672	NHEK	skin:	n/a	chr4:99916508-99916521 chr4:99916506-99916522
13	JUND	chr4:99916271-99916634	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:99916250-99918041	HepG2	liver:	n/a	n/a
15	YY1	chr4:99916249-99917599	HepG2	liver:	n/a	chr4:99916830-99916839 chr4:99917372-99917386 chr4:99917337-99917351 chr4:99916900-99916912 chr4:99916857-99916866 chr4:99917025-99917036
16	JUND	chr4:99916245-99916671	A549	lung:	n/a	n/a
17	ARID3A	chr4:99915902-99916631	K562	blood:	n/a	n/a
18	YY1	chr4:99916266-99916688	HCT-116	colon:	n/a	n/a
19	MAFF	chr4:99916014-99916603	HepG2	liver:	n/a	chr4:99916067-99916085
20	GATA3	chr4:99916177-99917071	MCF-7	breast:	n/a	chr4:99916478-99916485 chr4:99916478-99916485 chr4:99916478-99916485
21	CHD2	chr4:99916278-99918012	Hela-S3	cervix:	n/a	chr4:99916801-99916811 chr4:99917085-99917095
22	USF1	chr4:99916308-99916651	A549	lung:	n/a	n/a
23	IRF1	chr4:99915826-99917076	K562	blood:	n/a	chr4:99916758-99916772 chr4:99916175-99916188
24	CTCF	chr4:99916169-99916664	A549	lung:	n/a	chr4:99916508-99916521 chr4:99916506-99916522
25	POLR2A	chr4:99916169-99917468	K562	blood:	n/a	n/a
26	POLR2A	chr4:99916139-99916651	HUVEC	blood vessel:	n/a	n/a
27	MAX	chr4:99916181-99917518	H1-hESC	embryonic stem cell:	n/a	n/a
28	NFIC	chr4:99916277-99916641	HepG2	liver:	n/a	n/a
29	YY1	chr4:99916302-99916661	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:99916185-99916677	HCT-116	colon:	n/a	n/a
31	ZNF143	chr4:99916200-99917098	GM12878	blood:	n/a	chr4:99916832-99916842
32	TAF1	chr4:99916200-99916717	H1-hESC	embryonic stem cell:	n/a	n/a
33	STAT5A	chr4:99916192-99916673	K562	blood:	n/a	n/a
34	POLR2A	chr4:99916203-99916652	SK-N-MC	brain:	n/a	n/a
35	CTCF	chr4:99916274-99916647	K562	blood:	n/a	chr4:99916508-99916521 chr4:99916506-99916522
36	RUNX3	chr4:99916196-99916681	GM12878	blood:	n/a	n/a
37	EBF1	chr4:99916325-99916676	GM12878	blood:	n/a	chr4:99916351-99916361 chr4:99916363-99916374 chr4:99916351-99916360
38	MAFK	chr4:99916310-99916583	K562	blood:	n/a	n/a
39	PAX5	chr4:99916291-99916585	GM12878	blood:	n/a	n/a
40	FOXP2	chr4:99916299-99917096	PFSK-1	brain:	n/a	n/a
41	GTF2F1	chr4:99916256-99916607	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr4:99916261-99916632	Hela-S3	cervix:	n/a	n/a
43	RCOR1	chr4:99916176-99916621	K562	blood:	n/a	n/a
44	RAD21	chr4:99916143-99916697	A549	lung:	n/a	n/a
45	E2F4	chr4:99916195-99917536	K562	blood:	n/a	chr4:99916622-99916631 chr4:99916767-99916782 chr4:99917321-99917336 chr4:99916769-99916781 chr4:99916855-99916865 chr4:99916851-99916863 chr4:99917379-99917389
46	E2F6	chr4:99916271-99916687	K562	blood:	n/a	chr4:99916622-99916631
47	YY1	chr4:99916233-99916682	GM12892	blood:	n/a	n/a
48	CTCF	chr4:99916340-99916490	BE2_C	brain:	n/a	n/a
49	MYC	chr4:99916239-99917969	K562	blood:	n/a	chr4:99917719-99917728
50	SIN3AK20	chr4:99916192-99916650	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:99810116..99812190-chr4:99915522..99918265,3	K562	blood:
2	chr4:99916028..99916613-chr4:99971612..99972143,2	MCF-7	breast:
3	chr4:99848351..99851753-chr4:99915675..99920876,6	MCF-7	breast:
4	chr4:99830941..99833130-chr4:99915425..99918294,2	K562	blood:
5	chr4:99915525..99918321-chr4:99942451..99944575,2	K562	blood:
6	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
7	chr4:99859227..99861743-chr4:99914804..99916437,2	K562	blood:
8	chr4:99915265..99918330-chr4:100008518..100010769,3	K562	blood:
9	chr4:99914813..99916738-chr4:99980811..99982387,2	MCF-7	breast:
10	chr4:99913236..99916407-chr4:99949384..99951097,3	K562	blood:
11	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
12	chr4:99915764..99917972-chr4:100008352..100010409,2	MCF-7	breast:
13	chr4:99830466..99832441-chr4:99915754..99918294,2	K562	blood:
14	chr4:99915328..99918402-chr4:100008331..100011431,5	MCF-7	breast:
15	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
16	chr4:99914937..99918533-chr4:100007922..100010203,4	K562	blood:
17	chr4:99915655..99920524-chr4:100869895..100872849,4	K562	blood:
18	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

Variant related genes	Relation type
MIR3684	TF binding region
METAP1	TF binding region
ENSG00000197894	Chromatin interaction
ENSG00000249055	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000250496	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10002449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10084896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028370	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28659806	0.96[EUR][1000 genomes]
rs28720156	0.83[AMR][1000 genomes]
rs28730581	0.81[EUR][1000 genomes]
rs28730584	0.81[EUR][1000 genomes]
rs28730596	0.81[EUR][1000 genomes]
rs28730611	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730617	0.81[EUR][1000 genomes]
rs28730625	0.81[EUR][1000 genomes]
rs28730641	0.81[EUR][1000 genomes]
rs28730643	0.81[EUR][1000 genomes]
rs28730644	0.81[EUR][1000 genomes]
rs28730645	0.81[EUR][1000 genomes]
rs28730646	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730649	0.81[EUR][1000 genomes]
rs28894370	0.81[EUR][1000 genomes]
rs28894371	0.83[AMR][1000 genomes]
rs29001228	0.83[AMR][1000 genomes]
rs29001338	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001342	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001346	0.81[EUR][1000 genomes]
rs29001348	0.81[EUR][1000 genomes]
rs5003497	0.81[EUR][1000 genomes]
rs55831712	1.00[EUR][1000 genomes]
rs61431883	0.81[EUR][1000 genomes]
rs62323213	1.00[EUR][1000 genomes]
rs62323214	1.00[EUR][1000 genomes]
rs62323216	1.00[EUR][1000 genomes]
rs62323217	1.00[EUR][1000 genomes]
rs62323230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323234	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323235	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323241	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323242	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323245	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62323246	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323247	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323250	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323251	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323253	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323258	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325189	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62325190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62325192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325201	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325204	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325206	1.00[EUR][1000 genomes]
rs62325208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325211	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325212	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325239	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62325240	0.81[EUR][1000 genomes]
rs62325241	0.81[EUR][1000 genomes]
rs62325242	0.81[EUR][1000 genomes]
rs62325245	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6532781	0.81[EUR][1000 genomes]
rs6532792	0.81[EUR][1000 genomes]
rs6819694	0.81[EUR][1000 genomes]
rs6819724	0.81[EUR][1000 genomes]
rs6822742	0.81[EUR][1000 genomes]
rs6823388	0.81[EUR][1000 genomes]
rs6827292	0.81[EUR][1000 genomes]
rs72897156	0.81[EUR][1000 genomes]
rs7667261	0.81[EUR][1000 genomes]
rs7679102	0.81[EUR][1000 genomes]
rs7681427	0.81[EUR][1000 genomes]
rs7687322	0.81[EUR][1000 genomes]
rs9995869	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62323237	ADH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99915400-99918600	Active TSS	HepG2	liver
2	chr4:99915600-99916400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:99915600-99916400	Flanking Active TSS	Dnd41	blood
4	chr4:99915600-99918200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:99915600-99918400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:99915800-99916400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:99915800-99916400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:99915800-99916400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:99915800-99916400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr4:99915800-99916400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:99915800-99916400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr4:99915800-99916400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr4:99915800-99916400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:99915800-99916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:99915800-99916400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:99915800-99916400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr4:99915800-99916400	Flanking Active TSS	Liver	Liver
18	chr4:99915800-99916400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr4:99915800-99916400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr4:99915800-99916400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr4:99915800-99916400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:99915800-99916400	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr4:99915800-99916400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr4:99915800-99916400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr4:99915800-99916400	Flanking Active TSS	GM12878-XiMat	blood
26	chr4:99915800-99916400	Flanking Active TSS	Hela-S3	cervix
27	chr4:99915800-99916400	Flanking Active TSS	HMEC	breast
28	chr4:99915800-99916400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:99915800-99916400	Flanking Active TSS	NHEK	skin
30	chr4:99915800-99916600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr4:99915800-99917000	Active TSS	Brain Germinal Matrix	brain
32	chr4:99915800-99917200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:99915800-99917800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:99915800-99918000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr4:99915800-99918000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr4:99915800-99918000	Active TSS	Fetal Brain Female	brain
37	chr4:99915800-99918000	Active TSS	Psoas Muscle	Psoas
38	chr4:99915800-99918200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr4:99915800-99918200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:99915800-99918200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr4:99915800-99918200	Active TSS	Aorta	Aorta
42	chr4:99915800-99918200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr4:99915800-99918200	Active TSS	Ovary	ovary
44	chr4:99915800-99918200	Active TSS	HSMM	muscle
45	chr4:99915800-99918200	Active TSS	HSMMtube	muscle
46	chr4:99915800-99918200	Active TSS	NHDF-Ad	bronchial
47	chr4:99915800-99918400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr4:99915800-99918600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:99915800-99918600	Active TSS	H1 Cell Line	embryonic stem cell
50	chr4:99915800-99918600	Active TSS	NHLF	lung

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