Variant report

Variant	rs2072696
Chromosome Location	chr8:86351051-86351052
allele	C/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	TAF1	chr8:86350472-86351079	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:86350540-86351054	H1-hESC	embryonic stem cell:	n/a	n/a
3	SRF	chr8:86350875-86351253	H1-hESC	embryonic stem cell:	n/a	chr8:86351004-86351014 chr8:86351021-86351036 chr8:86351019-86351037 chr8:86351024-86351038 chr8:86351023-86351034 chr8:86351023-86351037 chr8:86351020-86351038 chr8:86351020-86351037 chr8:86351022-86351033 chr8:86351020-86351034 chr8:86351024-86351033 chr8:86351022-86351035
4	E2F6	chr8:86350565-86351306	H1-hESC	embryonic stem cell:	n/a	n/a
5	SRF	chr8:86350780-86351250	H1-hESC	embryonic stem cell:	n/a	chr8:86351004-86351014 chr8:86351021-86351036 chr8:86351019-86351037 chr8:86351024-86351038 chr8:86351023-86351034 chr8:86351023-86351037 chr8:86351020-86351038 chr8:86351020-86351037 chr8:86351022-86351033 chr8:86351020-86351034 chr8:86351024-86351033 chr8:86351022-86351035
6	MAX	chr8:86350846-86351283	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr8:86350986-86351163	K562	blood:	n/a	n/a
8	MAX	chr8:86350619-86351306	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr8:86350580-86351323	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86351018-86351068	CMK	blood:	n/a
2	chr8:86351018-86351068	MCF-7	breast:	n/a
3	chr8:86351018-86351068	HCM	heart:	n/a
4	chr8:86351018-86351068	AoSMC	blood vessel:	n/a
5	chr8:86351018-86351068	NB4	blood:	n/a
6	chr8:86351018-86351068	HRE	kidney:	n/a
7	chr8:86351018-86351068	SKMC	muscle:	n/a
8	chr8:86351018-86351068	NT2-D1	testis:	n/a
9	chr8:86351018-86351068	H1-hESC	embryonic stem cell:	embryo
10	chr8:86351018-86351068	NHDF-neo	bronchial:	n/a
11	chr8:86351018-86351068	K562	blood:	n/a
12	chr8:86351018-86351068	GM06990	blood:	n/a
13	chr8:86351018-86351068	HRCEpiC	kidney:	n/a
14	chr8:86351018-86351068	GM12892	blood:	n/a
15	chr8:86351018-86351068	U87	brain:	n/a
16	chr8:86351018-86351068	HUVEC	blood vessel:	n/a
17	chr8:86351018-86351068	HEEpiC	esophagus:	n/a
18	chr8:86351018-86351068	SK-N-SH	brain:	n/a
19	chr8:86351018-86351068	A549	lung:	n/a
20	chr8:86351018-86351068	AG04450	lung:	fetal
21	chr8:86351018-86351068	BE2_C	brain:	n/a
22	chr8:86351018-86351068	HMEC	breast:	n/a
23	chr8:86351018-86351068	HAEpiC	amniotic membrane:	n/a
24	chr8:86351018-86351068	Hepatocyte	liver:	n/a
25	chr8:86351018-86351068	HCF	heart:	n/a
26	chr8:86351018-86351068	HRPEpiC	eye:	n/a
27	chr8:86351018-86351068	ovcar-3	ovarian:	n/a
28	chr8:86351018-86351068	HL-60	blood:	n/a
29	chr8:86351018-86351068	HCT-116	colon:	n/a
30	chr8:86351018-86351068	IMR90	lung:	fetal
31	chr8:86351018-86351068	HCPEpiC	choroid plexus:	n/a
32	chr8:86351018-86351068	GM19239	blood:	n/a
33	chr8:86351018-86351068	SK-N-SH_RA	brain:	n/a
34	chr8:86351018-86351068	ECC-1	luminal epithelium:	n/a
35	chr8:86351018-86351068	HepG2	liver:	n/a
36	chr8:86351018-86351068	PFSK-1	brain:	n/a
37	chr8:86351018-86351068	PANC-1	pancreas:	n/a
38	chr8:86351018-86351068	AG04449	skin:	fetal
39	chr8:86351018-86351068	NH-A	brain:	n/a
40	chr8:86351018-86351068	NHBE	bronchial:	n/a
41	chr8:86351018-86351068	GM12878	blood:	n/a
42	chr8:86351018-86351068	SK-N-MC	brain:	n/a
43	chr8:86351018-86351068	ProgFib	skin:	n/a
44	chr8:86351018-86351068	HNPCEpiC	eye:	n/a
45	chr8:86351018-86351068	AG09309	skin:	n/a
46	chr8:86351018-86351068	AG10803	skin:	n/a
47	chr8:86351018-86351068	PrEC	prostate:	n/a
48	chr8:86351018-86351068	RPTEC	kidney:	n/a
49	chr8:86351018-86351068	Caco-2	colon:	n/a
50	chr8:86351018-86351068	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86348746..86351284-chr8:86374911..86377490,2	MCF-7	breast:

Variant related genes	Relation type
CA3	TF binding region
CA3	CpG island
ENSG00000104267	Chromatin interaction
ENSG00000253549	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10087278	0.83[ASN][1000 genomes]
rs10091566	0.88[ASN][1000 genomes]
rs10095352	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10504812	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs10504813	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10907474	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11261471	0.85[JPT][hapmap]
rs11261474	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11780285	0.81[AMR][1000 genomes]
rs11985029	0.87[ASN][1000 genomes]
rs11985733	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12541445	0.85[JPT][hapmap]
rs12543256	0.82[JPT][hapmap]
rs12544332	0.90[JPT][hapmap]
rs12546106	0.81[JPT][hapmap]
rs12550814	0.80[ASN][1000 genomes]
rs1303806	0.95[JPT][hapmap]
rs13252971	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13255540	0.94[ASN][1000 genomes]
rs13259399	0.90[JPT][hapmap]
rs1389245	0.95[ASN][1000 genomes]
rs1389247	0.95[ASN][1000 genomes]
rs1390711	0.95[JPT][hapmap]
rs1390712	0.84[ASN][1000 genomes]
rs1472360	0.90[ASN][1000 genomes]
rs1493302	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1496526	0.88[ASN][1000 genomes]
rs1496529	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1496530	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1496531	0.90[JPT][hapmap]
rs1496532	0.90[JPT][hapmap]
rs1532423	0.95[JPT][hapmap]
rs1532424	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1543852	0.87[ASN][1000 genomes]
rs1553015	0.95[JPT][hapmap]
rs16913721	0.90[JPT][hapmap]
rs17042	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs17740658	0.81[JPT][hapmap]
rs1908075	0.86[ASN][1000 genomes]
rs1995056	0.90[JPT][hapmap]
rs1995057	0.85[JPT][hapmap]
rs1995058	0.95[JPT][hapmap]
rs2006767	0.90[JPT][hapmap]
rs2055077	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs20571	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2173044	0.81[ASN][1000 genomes]
rs2279701	0.86[JPT][hapmap]
rs2291787	0.85[JPT][hapmap]
rs2307075	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2403104	0.95[JPT][hapmap]
rs2403105	0.94[ASN][1000 genomes]
rs2453868	0.89[ASN][1000 genomes]
rs2548281	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2645047	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2645049	0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2645053	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3087782	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3758076	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3758078	0.81[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs3808539	0.95[JPT][hapmap]
rs4566	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4609189	0.82[JPT][hapmap]
rs4739700	0.90[JPT][hapmap]
rs4740044	0.90[JPT][hapmap]
rs4740045	0.81[JPT][hapmap]
rs4740049	0.95[JPT][hapmap]
rs55641432	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55929157	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58958691	0.84[AMR][1000 genomes]
rs6605610	0.82[JPT][hapmap]
rs6605611	0.80[JPT][hapmap]
rs66498753	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67824746	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6988475	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6993387	0.90[JPT][hapmap]
rs6994113	0.81[JPT][hapmap]
rs6997458	0.95[JPT][hapmap]
rs7000950	0.80[ASN][1000 genomes]
rs7001359	0.86[JPT][hapmap]
rs7008772	0.90[JPT][hapmap]
rs7011926	0.95[JPT][hapmap]
rs7016369	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs703	0.82[ASN][1000 genomes]
rs713488	0.95[ASN][1000 genomes]
rs713489	0.95[ASN][1000 genomes]
rs725605	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7386162	0.82[AMR][1000 genomes]
rs7818163	0.90[JPT][hapmap]
rs7824715	0.82[ASN][1000 genomes]
rs903895	0.95[JPT][hapmap]
rs903896	0.95[JPT][hapmap]
rs903897	0.95[JPT][hapmap]
rs931505	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9969643	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs9987281	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs999466	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2072696	C8orf59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86349600-86351200	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr8:86349600-86351800	Active TSS	Psoas Muscle	Psoas
3	chr8:86350000-86351200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:86350000-86351400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:86350000-86351400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:86350000-86351600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:86350200-86351200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:86350200-86351200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:86350200-86351200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
10	chr8:86350200-86351200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:86350200-86351200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:86350200-86351200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr8:86350200-86351200	Bivalent/Poised TSS	Colonic Mucosa	Colon
14	chr8:86350200-86351200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr8:86350200-86351200	Active TSS	Right Atrium	heart
16	chr8:86350200-86351200	Enhancers	Spleen	Spleen
17	chr8:86350200-86351400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:86350200-86351400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr8:86350200-86351400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:86350200-86351400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:86350200-86351400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:86350200-86351400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:86350200-86351400	Active TSS	Brain Substantia Nigra	brain
24	chr8:86350200-86351400	Active TSS	Colon Smooth Muscle	Colon
25	chr8:86350200-86351400	Active TSS	Rectal Smooth Muscle	rectum
26	chr8:86350200-86351600	Active TSS	Brain Anterior Caudate	brain
27	chr8:86350200-86351600	Active TSS	Brain Cingulate Gyrus	brain
28	chr8:86350400-86351200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:86350400-86351200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr8:86350400-86351200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:86350400-86351200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:86350400-86351200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:86350400-86351200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr8:86350400-86351200	Active TSS	Fetal Lung	lung
35	chr8:86350400-86351200	Flanking Active TSS	Ovary	ovary
36	chr8:86350400-86351200	Flanking Active TSS	Right Ventricle	heart
37	chr8:86350400-86351200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr8:86350400-86351200	Active TSS	Osteobl	bone
39	chr8:86350400-86351400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr8:86350400-86351400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:86350400-86351400	Active TSS	Aorta	Aorta
42	chr8:86350400-86351400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:86350600-86351200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:86350600-86351200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:86350600-86351200	Active TSS	Brain Angular Gyrus	brain
46	chr8:86350600-86351200	Active TSS	Fetal Intestine Small	intestine
47	chr8:86350600-86351200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
48	chr8:86350600-86351200	Enhancers	Lung	lung
49	chr8:86350600-86351200	Flanking Active TSS	Pancreas	Pancrea
50	chr8:86350600-86351200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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