Variant report

Variant	rs72658335
Chromosome Location	chr8:63924692-63924693
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	RAD21	chr8:63924288-63924736	H1-hESC	embryonic stem cell:	n/a	chr8:63924478-63924497
2	SMC3	chr8:63924328-63924708	Hela-S3	cervix:	n/a	chr8:63924482-63924496
3	MAFK	chr8:63924413-63924828	H1-hESC	embryonic stem cell:	n/a	chr8:63924724-63924739
4	CTCF	chr8:63924660-63924810	GM12865	blood:	n/a	n/a
5	RAD21	chr8:63924132-63924791	SK-N-SH	brain:	n/a	chr8:63924478-63924497
6	RAD21	chr8:63924382-63924694	ECC-1	luminal epithelium:	n/a	chr8:63924478-63924497
7	RAD21	chr8:63924281-63924698	H1-hESC	embryonic stem cell:	n/a	chr8:63924478-63924497
8	RAD21	chr8:63924297-63924707	HepG2	liver:	n/a	chr8:63924478-63924497
9	MAFK	chr8:63924296-63924877	Hela-S3	cervix:	n/a	chr8:63924724-63924739
10	MAFF	chr8:63924469-63924893	HepG2	liver:	n/a	chr8:63924723-63924741
11	CTCF	chr8:63924620-63924770	RPTEC	kidney:	n/a	n/a
12	RAD21	chr8:63924221-63924759	A549	lung:	n/a	chr8:63924478-63924497
13	CTCF	chr8:63924620-63924770	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr8:63924580-63924730	GM12866	blood:	n/a	n/a
15	CTCF	chr8:63924356-63924715	SK-N-SH	brain:	n/a	chr8:63924475-63924496
16	RAD21	chr8:63924341-63924814	HCT-116	colon:	n/a	chr8:63924478-63924497
17	MAFF	chr8:63924532-63924840	K562	blood:	n/a	chr8:63924723-63924741
18	CTCF	chr8:63924660-63924810	NHEK	skin:	n/a	n/a
19	MAFK	chr8:63924478-63924889	HepG2	liver:	n/a	chr8:63924724-63924739
20	MAFK	chr8:63924478-63924907	HepG2	liver:	n/a	chr8:63924724-63924739
21	CTCF	chr8:63924680-63924830	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr8:63924600-63924750	WI-38	lung:	n/a	n/a
23	CTCF	chr8:63924376-63924697	MCF-7	breast:	n/a	chr8:63924475-63924496
24	RAD21	chr8:63924188-63924761	MCF-7	breast:	n/a	chr8:63924478-63924497
25	CTCF	chr8:63924088-63924741	GM12878	blood:	n/a	chr8:63924475-63924496
26	RAD21	chr8:63924223-63924711	A549	lung:	n/a	chr8:63924478-63924497
27	CTCF	chr8:63924216-63924807	A549	lung:	n/a	chr8:63924475-63924496
28	MAFK	chr8:63924551-63924770	K562	blood:	n/a	chr8:63924724-63924739
29	RAD21	chr8:63924345-63924820	HCT-116	colon:	n/a	chr8:63924478-63924497
30	MAFK	chr8:63924431-63924893	IMR90	lung:	n/a	chr8:63924724-63924739
31	CTCF	chr8:63924620-63924770	GM12873	blood:	n/a	n/a
32	CTCF	chr8:63924640-63924790	GM12871	blood:	n/a	n/a
33	CTCF	chr8:63924211-63924835	HCT-116	colon:	n/a	chr8:63924475-63924496

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63544521..63545096-chr8:63924008..63924706,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKAIN3-1	chr8:63924580-63924728	XLOC_006819

Variant related genes	Relation type
ENSG00000240915	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11988327	1.00[ASN][1000 genomes]
rs11995803	1.00[ASN][1000 genomes]
rs16930185	0.82[EUR][1000 genomes]
rs34766023	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55691782	0.82[EUR][1000 genomes]
rs57520077	0.82[EUR][1000 genomes]
rs58243916	0.82[EUR][1000 genomes]
rs60596167	0.82[EUR][1000 genomes]
rs60864225	0.82[EUR][1000 genomes]
rs61402647	0.82[EUR][1000 genomes]
rs66507324	0.82[EUR][1000 genomes]
rs66521539	0.82[EUR][1000 genomes]
rs67530611	0.82[EUR][1000 genomes]
rs67574340	0.82[EUR][1000 genomes]
rs67833679	0.82[EUR][1000 genomes]
rs67890556	0.82[EUR][1000 genomes]
rs68126533	0.82[EUR][1000 genomes]
rs72655003	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655011	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655020	1.00[ASN][1000 genomes]
rs72655031	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655032	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655033	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655040	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655052	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655076	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72656520	1.00[ASN][1000 genomes]
rs72656523	1.00[ASN][1000 genomes]
rs72656530	1.00[ASN][1000 genomes]
rs72656539	1.00[ASN][1000 genomes]
rs72656545	1.00[ASN][1000 genomes]
rs72656600	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658363	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658377	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658378	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72658399	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72659805	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72659809	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72659816	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72659831	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72659834	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72659847	0.82[EUR][1000 genomes]
rs72659848	0.82[EUR][1000 genomes]
rs72659849	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72659850	0.82[EUR][1000 genomes]
rs72659853	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72659855	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72659857	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72659859	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72659867	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72659879	0.82[EUR][1000 genomes]
rs72659896	0.87[AMR][1000 genomes]
rs73272427	0.82[EUR][1000 genomes]
rs73272436	0.82[EUR][1000 genomes]
rs73272447	0.82[EUR][1000 genomes]
rs7819218	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63906800-63926200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:63919600-63924800	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:63919800-63924800	Enhancers	Fetal Intestine Small	intestine
4	chr8:63920800-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:63922000-63932000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:63922200-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:63922400-63941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:63922600-63936600	Weak transcription	HSMM	muscle
9	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
10	chr8:63922800-63925200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:63922800-63928600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:63922800-63931000	Weak transcription	Thymus	Thymus
13	chr8:63922800-63937600	Weak transcription	Fetal Thymus	thymus
14	chr8:63922800-63938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:63922800-63938000	Weak transcription	Esophagus	oesophagus
16	chr8:63922800-63939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:63922800-63941000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:63922800-63950000	Weak transcription	HMEC	breast
20	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:63923000-63924800	Enhancers	Fetal Intestine Large	intestine
22	chr8:63923000-63926600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:63923200-63930400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:63923400-63925800	Weak transcription	Brain Germinal Matrix	brain
25	chr8:63923400-63940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:63923600-63941800	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:63923600-63944600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:63923800-63925200	Enhancers	Liver	Liver
29	chr8:63923800-63950600	Weak transcription	Fetal Kidney	kidney
30	chr8:63924000-63928200	Weak transcription	HepG2	liver
31	chr8:63924000-63944800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:63924200-63935600	Weak transcription	GM12878-XiMat	blood
33	chr8:63924200-63941200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:63924200-63941800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:63924400-63937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:63924600-63925200	Enhancers	Placenta	Placenta

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