Variant report

Variant	rs36064377
Chromosome Location	chr18:9516577-9516578
allele	A/C
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	CTCF	chr18:9516416-9516851	K562	blood:	n/a	chr18:9516624-9516642
2	TBL1XR1	chr18:9516478-9516745	GM12878	blood:	n/a	n/a
3	RAD21	chr18:9516392-9517025	SK-N-SH	brain:	n/a	chr18:9516745-9516757
4	CTCF	chr18:9516520-9516670	WI-38	lung:	n/a	chr18:9516624-9516642
5	ARID3A	chr18:9516473-9516738	K562	blood:	n/a	n/a
6	CTCF	chr18:9516536-9516690	SK-N-SH_RA	brain:	n/a	chr18:9516624-9516642
7	RAD21	chr18:9516387-9516916	H1-hESC	embryonic stem cell:	n/a	chr18:9516745-9516757
8	CTCF	chr18:9516540-9516690	GM12868	blood:	n/a	chr18:9516624-9516642
9	CTCF	chr18:9516506-9516760	Hela-S3	cervix:	n/a	chr18:9516624-9516642
10	CTCF	chr18:9516560-9516710	HEEpiC	esophagus:	n/a	chr18:9516624-9516642
11	RAD21	chr18:9516418-9516839	Hela-S3	cervix:	n/a	chr18:9516745-9516757
12	CTCF	chr18:9516521-9516764	Kidney_OC	kidney:	n/a	chr18:9516624-9516642
13	CTCF	chr18:9516540-9516690	GM12865	blood:	n/a	chr18:9516624-9516642
14	RAD21	chr18:9516399-9516770	HepG2	liver:	n/a	chr18:9516745-9516757
15	CTCF	chr18:9516540-9516690	HMF	breast:	n/a	chr18:9516624-9516642
16	CTCF	chr18:9516500-9516778	Gliobla	brain:	n/a	chr18:9516624-9516642
17	CTCF	chr18:9516518-9516762	GM10248	blood:	n/a	chr18:9516624-9516642
18	RAD21	chr18:9516263-9516915	ECC-1	luminal epithelium:	n/a	chr18:9516745-9516757
19	CTCF	chr18:9516347-9516903	MCF-7	breast:	n/a	chr18:9516624-9516642
20	CTCF	chr18:9516226-9516928	SK-N-SH	brain:	n/a	chr18:9516624-9516642
21	STAT3	chr18:9516560-9516792	GM12878	blood:	n/a	n/a
22	CTCF	chr18:9516560-9516710	HEK293	kidney:	n/a	chr18:9516624-9516642
23	BRCA1	chr18:9516445-9516779	Hela-S3	cervix:	n/a	n/a
24	MYC	chr18:9516573-9516801	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr18:9516394-9516844	HepG2	liver:	n/a	chr18:9516624-9516642
26	RFX5	chr18:9516473-9516761	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr18:9516414-9516832	SK-N-SH_RA	brain:	n/a	chr18:9516745-9516757
28	CTCF	chr18:9516511-9516745	HepG2	liver:	n/a	chr18:9516624-9516642
29	TBL1XR1	chr18:9516488-9516704	K562	blood:	n/a	n/a
30	RAD21	chr18:9516453-9516818	K562	blood:	n/a	chr18:9516745-9516757
31	RCOR1	chr18:9516542-9516683	HepG2	liver:	n/a	n/a
32	RAD21	chr18:9516482-9516767	A549	lung:	n/a	chr18:9516745-9516757
33	CTCF	chr18:9516560-9516710	GM12867	blood:	n/a	chr18:9516624-9516642
34	ZNF143	chr18:9516454-9516814	GM12878	blood:	n/a	n/a
35	CTCF	chr18:9516520-9516670	GM12871	blood:	n/a	chr18:9516624-9516642
36	CTCF	chr18:9516502-9516787	Medullo	brain:	n/a	chr18:9516624-9516642
37	CTCF	chr18:9516560-9516710	HL-60	blood:	n/a	chr18:9516624-9516642
38	SMC3	chr18:9516453-9516827	HepG2	liver:	n/a	chr18:9516745-9516755
39	CTCF	chr18:9516560-9516710	HPAF	blood vessel:	n/a	chr18:9516624-9516642
40	CTCF	chr18:9516540-9516690	RPTEC	kidney:	n/a	chr18:9516624-9516642
41	CTCF	chr18:9516439-9516796	ECC-1	luminal epithelium:	n/a	chr18:9516624-9516642
42	RAD21	chr18:9516408-9516819	SK-N-SH_RA	brain:	n/a	chr18:9516745-9516757
43	MAZ	chr18:9516480-9516728	K562	blood:	n/a	n/a
44	CTCF	chr18:9516522-9516763	Pancreas_OC	pancreas:	n/a	chr18:9516624-9516642
45	RAD21	chr18:9516255-9516943	HCT-116	colon:	n/a	chr18:9516745-9516757
46	CTCF	chr18:9516560-9516710	K562	blood:	n/a	chr18:9516624-9516642
47	CTCF	chr18:9516522-9516790	Lung_OC	lung:	n/a	chr18:9516624-9516642
48	MAX	chr18:9516474-9516630	K562	blood:	n/a	n/a
49	CTCF	chr18:9516437-9516733	SK-N-SH_RA	brain:	n/a	chr18:9516624-9516642
50	CTCF	chr18:9516560-9516710	HCFaa	heart:	n/a	chr18:9516624-9516642

No.	Distal block	Cell Line	Cell type
1	chr18:9515412..9517227-chr18:9520655..9522238,2	K562	blood:
2	chr18:9366198..9366924-chr18:9516202..9517058,2	MCF-7	breast:
3	chr18:9334277..9336266-chr18:9514400..9517200,2	MCF-7	breast:
4	chr18:9147696..9148402-chr18:9516137..9516760,2	MCF-7	breast:
5	chr18:9073285..9074269-chr18:9516154..9517091,4	K562	blood:

Variant related genes	Relation type
ENSG00000273352	TF binding region
ENSG00000128791	Chromatin interaction
ENSG00000264964	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11876700	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12955301	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958342	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958352	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958901	0.88[EUR][1000 genomes]
rs12962895	0.86[ASN][1000 genomes]
rs12965004	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965619	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12966136	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12969608	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12970100	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955222	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955240	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955247	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34361892	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34863209	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34979461	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35062594	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189459	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35833761	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57539532	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71362083	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7228633	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231281	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231656	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7232664	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236410	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8085681	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096628	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8099656	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
2	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
3	chr18:9479000-9533600	Weak transcription	Gastric	stomach
4	chr18:9495000-9518000	Weak transcription	Liver	Liver
5	chr18:9495000-9518000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
8	chr18:9495400-9524000	Weak transcription	Spleen	Spleen
9	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr18:9495800-9517000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr18:9496800-9534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr18:9497400-9532600	Weak transcription	Colonic Mucosa	Colon
13	chr18:9497600-9517200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr18:9498400-9523200	Weak transcription	Esophagus	oesophagus
15	chr18:9499400-9525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
17	chr18:9502200-9519800	Weak transcription	Brain Angular Gyrus	brain
18	chr18:9503000-9517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:9503800-9517400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr18:9505200-9524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:9506200-9517200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:9506400-9522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:9506800-9517000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr18:9506800-9517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:9506800-9517200	Weak transcription	Brain Anterior Caudate	brain
26	chr18:9506800-9517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr18:9506800-9518000	Weak transcription	Brain Substantia Nigra	brain
28	chr18:9506800-9518000	Weak transcription	Left Ventricle	heart
29	chr18:9506800-9532000	Weak transcription	Pancreas	Pancrea
30	chr18:9507200-9522000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr18:9507600-9517200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:9508000-9522400	Weak transcription	Lung	lung
33	chr18:9508000-9522600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr18:9508000-9531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr18:9508400-9522400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:9508400-9522400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr18:9508600-9518000	Weak transcription	GM12878-XiMat	blood
38	chr18:9508600-9521800	Weak transcription	Ovary	ovary
39	chr18:9508600-9522000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:9508600-9525200	Weak transcription	Brain Germinal Matrix	brain
41	chr18:9508600-9531800	Weak transcription	Small Intestine	intestine
42	chr18:9509000-9522200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr18:9510800-9522200	Weak transcription	Fetal Lung	lung
44	chr18:9511200-9516600	Weak transcription	Placenta	Placenta
45	chr18:9512000-9521800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr18:9512200-9524600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:9512800-9518800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr18:9512800-9524400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr18:9513000-9516600	Weak transcription	HUVEC	blood vessel
50	chr18:9513000-9518000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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