Variant report

Variant	rs7174210
Chromosome Location	chr15:58809493-58809494
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:58809440-58809590	BE2_C	brain:	n/a	n/a
2	CTCF	chr15:58809440-58809590	GM12871	blood:	n/a	n/a
3	CTCF	chr15:58809454-58809595	Hela-S3	cervix:	n/a	n/a
4	CBX3	chr15:58809218-58809676	HCT-116	colon:	n/a	n/a
5	CTCF	chr15:58809440-58809590	WERI-Rb-1	eye:	n/a	n/a
6	RAD21	chr15:58809413-58809627	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr15:58809440-58809590	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr15:58809347-58809686	HepG2	liver:	n/a	n/a
9	CTCF	chr15:58809400-58809550	AG04450	lung:	n/a	n/a
10	RAD21	chr15:58809269-58809720	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMC3	chr15:58809362-58809568	HepG2	liver:	n/a	n/a
12	CTCF	chr15:58809380-58809530	AoAF	blood vessel:	n/a	n/a
13	CTCF	chr15:58809400-58809550	GM12864	blood:	n/a	n/a
14	CTCF	chr15:58809480-58809630	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr15:58809440-58809590	HRE	kidney:	n/a	n/a
16	CTCF	chr15:58809436-58809576	MCF-7	breast:	n/a	n/a
17	CTCF	chr15:58809460-58809610	HepG2	liver:	n/a	n/a
18	CTCF	chr15:58809475-58809556	K562	blood:	n/a	n/a
19	CTCF	chr15:58809420-58809570	HCM	heart:	n/a	n/a
20	CTCF	chr15:58809331-58809650	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr15:58809460-58809610	GM12878	blood:	n/a	n/a
22	RAD21	chr15:58809351-58809572	HepG2	liver:	n/a	n/a
23	CTCF	chr15:58809420-58809570	HAc	cerebellar:	n/a	n/a
24	CTCF	chr15:58809451-58809567	GM12891	blood:	n/a	n/a
25	CTCF	chr15:58809380-58809530	NHEK	skin:	n/a	n/a
26	MTA3	chr15:58809373-58811121	GM12878	blood:	n/a	n/a
27	CTCF	chr15:58809400-58809550	AG04449	skin:	n/a	n/a
28	CTCF	chr15:58809412-58809578	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr15:58809460-58809610	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr15:58809394-58809682	GM12878	blood:	n/a	n/a
31	EBF1	chr15:58809364-58809629	GM12878	blood:	n/a	n/a
32	CTCF	chr15:58809420-58809570	HCT-116	colon:	n/a	n/a
33	CTCF	chr15:58809400-58809550	HRE	kidney:	n/a	n/a
34	CTCF	chr15:58809471-58809542	GM19238	blood:	n/a	n/a
35	CTCF	chr15:58809380-58809530	GM12875	blood:	n/a	n/a
36	CTCF	chr15:58809420-58809570	HMF	breast:	n/a	n/a
37	CTCF	chr15:58809480-58809630	HRPEpiC	eye:	n/a	n/a
38	RAD21	chr15:58809332-58809608	HepG2	liver:	n/a	n/a
39	CTCF	chr15:58809400-58809550	GM12866	blood:	n/a	n/a
40	CTCF	chr15:58809420-58809570	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr15:58809420-58809570	GM06990	blood:	n/a	n/a
42	CTCF	chr15:58809460-58809610	GM12873	blood:	n/a	n/a
43	CTCF	chr15:58809440-58809590	GM12873	blood:	n/a	n/a
44	CTCF	chr15:58809450-58809566	NHEK	skin:	n/a	n/a
45	CTCF	chr15:58809473-58809546	GM13977	blood:	n/a	n/a
46	CTCF	chr15:58809473-58809566	GM12892	blood:	n/a	n/a
47	SMC3	chr15:58809413-58809613	Hela-S3	cervix:	n/a	chr15:58809591-58809601
48	CTCF	chr15:58809440-58809590	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr15:58809450-58809545	GM19240	blood:	n/a	n/a
50	CTCF	chr15:58809420-58809570	GM12871	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58808761..58811985-chr15:58842114..58844975,3	K562	blood:
2	chr15:58800669..58805424-chr15:58807712..58810883,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259476	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11629762	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11630152	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11630220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633131	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11638347	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17190615	1.00[CHB][hapmap]
rs2899632	1.00[CHB][hapmap]
rs7175593	1.00[CHB][hapmap]
rs8029592	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7174210	FAM63B	cis	parietal	SCAN
rs7174210	KIAA1370	cis	parietal	SCAN
rs7174210	KIAA1370	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58798600-58813200	Weak transcription	Aorta	Aorta
2	chr15:58798800-58812600	Weak transcription	Left Ventricle	heart
3	chr15:58803600-58811800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:58803800-58812600	Weak transcription	Esophagus	oesophagus
5	chr15:58804000-58816200	Weak transcription	Liver	Liver
6	chr15:58806200-58813200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:58806400-58812600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:58806400-58813200	Weak transcription	Pancreas	Pancrea
9	chr15:58807000-58812600	Enhancers	Primary T cells from cord blood	blood
10	chr15:58807000-58813400	Weak transcription	Fetal Brain Male	brain
11	chr15:58807200-58809600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr15:58807200-58809600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr15:58807600-58815400	Enhancers	Fetal Thymus	thymus
14	chr15:58807800-58811000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr15:58807800-58811000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr15:58807800-58811200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr15:58807800-58811800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:58807800-58812600	Enhancers	K562	blood
19	chr15:58807800-58813400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr15:58807800-58815800	Enhancers	Primary B cells from cord blood	blood
21	chr15:58807800-58820200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:58808000-58810800	Weak transcription	Fetal Kidney	kidney
23	chr15:58808000-58811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:58808200-58809600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:58808400-58809800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr15:58808400-58813600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:58808400-58816200	Weak transcription	HepG2	liver
28	chr15:58809000-58810400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr15:58809000-58811200	Enhancers	Thymus	Thymus
30	chr15:58809000-58811800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:58809000-58812600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr15:58809200-58809600	Flanking Active TSS	Dnd41	blood
33	chr15:58809200-58810600	Enhancers	Placenta	Placenta
34	chr15:58809200-58810800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:58809200-58811200	Enhancers	Brain Hippocampus Middle	brain
36	chr15:58809200-58811200	Flanking Active TSS	GM12878-XiMat	blood
37	chr15:58809200-58811400	Enhancers	Primary hematopoietic stem cells	blood
38	chr15:58809400-58809600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:58809400-58809600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:58809400-58809600	Enhancers	Brain Cingulate Gyrus	brain
41	chr15:58809400-58809600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr15:58809400-58809600	Enhancers	Stomach Mucosa	stomach
43	chr15:58809400-58809800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:58809400-58810000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr15:58809400-58810000	Enhancers	Brain Angular Gyrus	brain
46	chr15:58809400-58810200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:58809400-58810200	Enhancers	Fetal Muscle Leg	muscle
48	chr15:58809400-58810200	Enhancers	HSMMtube	muscle
49	chr15:58809400-58810400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr15:58809400-58810600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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