Variant report

Variant	rs17627589
Chromosome Location	chr7:47798901-47798902
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	EP300	chr7:47798737-47799427	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr7:47798791-47798953	NHEK	skin:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
3	CTCF	chr7:47798608-47799135	HCT-116	colon:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
4	CTCF	chr7:47798783-47798931	MCF-7	breast:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
5	RAD21	chr7:47798544-47799126	HCT-116	colon:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
6	RAD21	chr7:47798716-47799019	IMR90	lung:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
7	CTCF	chr7:47798639-47798956	A549	lung:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
8	CTCF	chr7:47798780-47798930	HPF	lung:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
9	RAD21	chr7:47798597-47799093	A549	lung:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
10	CTCF	chr7:47798820-47798970	Hela-S3	cervix:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
11	CTCF	chr7:47798815-47798916	A549	lung:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
12	CTCF	chr7:47798820-47798970	HFF-Myc	foreskin:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
13	RAD21	chr7:47798665-47799045	Hela-S3	cervix:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
14	CTCF	chr7:47798845-47798914	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:47798760-47798910	HEEpiC	esophagus:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
16	CTCF	chr7:47798840-47798990	BE2_C	brain:	n/a	n/a
17	CTCF	chr7:47798780-47798930	HepG2	liver:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
18	CTCF	chr7:47798780-47798930	GM12865	blood:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
19	CTCF	chr7:47798722-47798944	HepG2	liver:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
20	RAD21	chr7:47798684-47799458	SK-N-SH_RA	brain:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
21	RAD21	chr7:47798605-47799120	ECC-1	luminal epithelium:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
22	CTCF	chr7:47798780-47798930	NHDF-neo	bronchial:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
23	CTCF	chr7:47798834-47798901	GM12892	blood:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
24	CTCF	chr7:47798734-47798935	HUVEC	blood vessel:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
25	CTCF	chr7:47798780-47798930	AG04449	skin:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
26	CTCF	chr7:47798710-47798982	K562	blood:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
27	CTCF	chr7:47798820-47798970	HCPEpiC	choroid plexus:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
28	RAD21	chr7:47798736-47798961	H1-hESC	embryonic stem cell:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
29	CTCF	chr7:47798760-47798910	BE2_C	brain:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
30	CTCF	chr7:47798760-47798910	HA-sp	spinal cord:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
31	RAD21	chr7:47798709-47798983	H1-hESC	embryonic stem cell:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
32	CTCF	chr7:47798820-47798970	MCF-7	breast:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
33	RAD21	chr7:47798765-47799028	MCF-7	breast:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
34	CTCF	chr7:47798760-47798910	HFF	foreskin:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
35	CTCF	chr7:47798760-47798910	NHLF	lung:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
36	CTCF	chr7:47798760-47798910	HCT-116	colon:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
37	SMC3	chr7:47798680-47799064	Hela-S3	cervix:	n/a	chr7:47798836-47798850
38	CTCF	chr7:47798760-47798910	HVMF	connective:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
39	CTCF	chr7:47798760-47798910	HRPEpiC	eye:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
40	CTCF	chr7:47798840-47798990	K562	blood:	n/a	n/a
41	CTCF	chr7:47798760-47798910	Hela-S3	cervix:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
42	CTCF	chr7:47798780-47798930	Caco-2	colon:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
43	CTCF	chr7:47798760-47798910	AG09319	gingival:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
44	CTCF	chr7:47798760-47798910	GM12871	blood:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
45	CTCF	chr7:47798820-47798970	RPTEC	kidney:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
46	RAD21	chr7:47798641-47799056	ECC-1	luminal epithelium:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
47	CTCF	chr7:47798800-47798950	HAc	cerebellar:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846
48	RAD21	chr7:47798554-47799187	A549	lung:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
49	RAD21	chr7:47798746-47799015	HepG2	liver:	n/a	chr7:47798835-47798854 chr7:47798840-47798850
50	CTCF	chr7:47798760-47798910	AG04449	skin:	n/a	chr7:47798836-47798857 chr7:47798834-47798852 chr7:47798835-47798851 chr7:47798837-47798846

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47788868..47790580-chr7:47796478..47799163,2	MCF-7	breast:

Variant related genes	Relation type
LINC00525	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17627595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17627601	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62446560	0.89[AFR][1000 genomes];0.90[ASN][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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17627589	HUS1	cis	cerebellum	SCAN
rs17627589	IKZF1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47774400-47802600	Weak transcription	Pancreas	Pancrea
2	chr7:47796200-47799000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:47796200-47799000	Enhancers	Osteobl	bone
4	chr7:47796400-47799400	Enhancers	HMEC	breast
5	chr7:47796800-47799400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:47797200-47799000	Enhancers	NHDF-Ad	bronchial
7	chr7:47797200-47799400	Enhancers	NHLF	lung
8	chr7:47797200-47799600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:47797200-47799600	Enhancers	A549	lung
10	chr7:47797600-47799000	Enhancers	Hela-S3	cervix
11	chr7:47797800-47802400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:47797800-47802800	Weak transcription	Placenta	Placenta
13	chr7:47798000-47803000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:47798200-47802400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:47798200-47802600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:47798400-47799200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:47798400-47802800	Weak transcription	Fetal Kidney	kidney
18	chr7:47798400-47802800	Weak transcription	Fetal Lung	lung
19	chr7:47798400-47802800	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:47798600-47799400	Enhancers	HSMM	muscle
21	chr7:47798600-47799800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:47798600-47799800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:47798600-47800400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:47798600-47802000	Weak transcription	NH-A	brain
25	chr7:47798600-47802200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:47798600-47802400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:47798600-47802400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:47798600-47802600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:47798600-47802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:47798600-47802600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:47798600-47802800	Weak transcription	Adipose Nuclei	Adipose
32	chr7:47798600-47812200	Weak transcription	Aorta	Aorta
33	chr7:47798800-47799200	Weak transcription	HepG2	liver
34	chr7:47798800-47799600	Enhancers	HSMMtube	muscle
35	chr7:47798800-47802600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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