Variant report

Variant	rs71369787
Chromosome Location	chr17:37886949-37886950
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	SMC3	chr17:37886362-37887142	Hela-S3	cervix:	n/a	chr17:37886854-37886868 chr17:37886854-37886864
2	YY1	chr17:37886694-37886960	SK-N-SH_RA	brain:	n/a	chr17:37886853-37886867
3	POLR2A	chr17:37886337-37886978	A549	lung:	n/a	n/a
4	POLR2A	chr17:37882559-37887116	PFSK-1	brain:	n/a	n/a
5	USF1	chr17:37886468-37887018	SK-N-SH_RA	brain:	n/a	chr17:37886799-37886808 chr17:37886797-37886810 chr17:37886799-37886808 chr17:37886800-37886809 chr17:37886798-37886807
6	USF1	chr17:37886350-37887051	K562	blood:	n/a	chr17:37886799-37886808 chr17:37886797-37886810 chr17:37886799-37886808 chr17:37886800-37886809 chr17:37886798-37886807
7	SMC3	chr17:37886333-37887087	GM12878	blood:	n/a	chr17:37886854-37886868 chr17:37886854-37886864
8	USF2	chr17:37886256-37887020	HepG2	liver:	n/a	chr17:37886799-37886808 chr17:37886797-37886808 chr17:37886797-37886810 chr17:37886799-37886808 chr17:37886800-37886809 chr17:37886798-37886807
9	USF1	chr17:37886409-37887112	ECC-1	luminal epithelium:	n/a	chr17:37886799-37886808 chr17:37886797-37886810 chr17:37886799-37886808 chr17:37886800-37886809 chr17:37886798-37886807
10	MAX	chr17:37886029-37887084	A549	lung:	n/a	chr17:37886799-37886808
11	CTCF	chr17:37886348-37887178	HCT-116	colon:	n/a	chr17:37886422-37886430 chr17:37886854-37886867 chr17:37886852-37886870
12	CTCF	chr17:37886715-37886955	LNCaP	prostate:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
13	STAT5A	chr17:37886079-37887098	GM12878	blood:	n/a	chr17:37887080-37887091
14	RAD21	chr17:37886546-37887058	Hela-S3	cervix:	n/a	chr17:37886853-37886866 chr17:37886854-37886864 chr17:37886850-37886869
15	CTCF	chr17:37886524-37887123	IMR90	lung:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
16	CTCF	chr17:37886639-37886964	GM20000	blood:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
17	RCOR1	chr17:37886133-37887056	K562	blood:	n/a	n/a
18	CTCF	chr17:37886800-37886950	RPTEC	kidney:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
19	YY1	chr17:37886589-37887011	SK-N-SH_RA	brain:	n/a	chr17:37886853-37886867
20	CTCF	chr17:37886616-37887030	GM12878	blood:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
21	POLR2A	chr17:37886310-37887021	HL-60	blood:	n/a	n/a
22	JUND	chr17:37886339-37887042	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr17:37886364-37886953	GM12891	blood:	n/a	n/a
24	E2F6	chr17:37886279-37887017	K562	blood:	n/a	chr17:37886386-37886397
25	POLR2A	chr17:37878857-37887318	HepG2	liver:	n/a	n/a
26	CTCF	chr17:37886450-37887041	MCF-7	breast:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
27	ELF1	chr17:37886126-37887173	HCT-116	colon:	n/a	chr17:37886772-37886785
28	CTCF	chr17:37886800-37886950	HBMEC	blood vessel:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
29	POLR2A	chr17:37885177-37887045	MCF-7	breast:	n/a	n/a
30	POLR2A	chr17:37886300-37887066	GM18505	blood:	n/a	n/a
31	POLR2A	chr17:37884934-37887060	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr17:37886599-37887009	NHEK	skin:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
33	GTF2F1	chr17:37886797-37887080	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr17:37886278-37886957	HepG2	liver:	n/a	n/a
35	MAX	chr17:37886151-37887079	H1-hESC	embryonic stem cell:	n/a	chr17:37886799-37886808
36	MBD4	chr17:37886554-37887117	HepG2	liver:	n/a	n/a
37	TAF1	chr17:37886473-37886960	GM12878	blood:	n/a	n/a
38	CTCF	chr17:37886820-37886970	A549	lung:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
39	MYC	chr17:37886247-37887015	K562	blood:	n/a	chr17:37886799-37886808
40	MBD4	chr17:37886600-37887195	HepG2	liver:	n/a	n/a
41	TAF1	chr17:37886371-37887042	PFSK-1	brain:	n/a	n/a
42	USF2	chr17:37886318-37887037	H1-hESC	embryonic stem cell:	n/a	chr17:37886799-37886808 chr17:37886797-37886808 chr17:37886797-37886810 chr17:37886799-37886808 chr17:37886800-37886809 chr17:37886798-37886807
43	MXI1	chr17:37885954-37887361	SK-N-SH	brain:	n/a	n/a
44	JUND	chr17:37886528-37887023	HepG2	liver:	n/a	n/a
45	ATF3	chr17:37886503-37887086	A549	lung:	n/a	chr17:37886808-37886817 chr17:37886799-37886819 chr17:37886788-37886808
46	TAF1	chr17:37886308-37887053	ECC-1	luminal epithelium:	n/a	n/a
47	CREB1	chr17:37886155-37887134	HepG2	liver:	n/a	n/a
48	CTCF	chr17:37886600-37886998	GM13976	blood:	n/a	chr17:37886854-37886867 chr17:37886852-37886870
49	USF1	chr17:37886211-37887186	HCT-116	colon:	n/a	chr17:37886799-37886808 chr17:37886797-37886810 chr17:37886799-37886808 chr17:37886800-37886809 chr17:37886798-37886807
50	EP300	chr17:37886568-37887132	A549	lung:	n/a	chr17:37887075-37887089 chr17:37886918-37886934

No.	Distal block	Cell Line	Cell type
1	chr17:37781012..37783798-chr17:37885303..37888164,4	K562	blood:
2	chr17:37860742..37863626-chr17:37884816..37888176,3	MCF-7	breast:
3	chr17:37836650..37841918-chr17:37884817..37888421,5	K562	blood:
4	chr17:37821804..37826261-chr17:37885454..37888153,4	K562	blood:
5	chr17:37884905..37887693-chr17:37894356..37897202,3	MCF-7	breast:
6	chr17:37855322..37860162-chr17:37882817..37887032,7	MCF-7	breast:
7	chr17:37855311..37858072-chr17:37885359..37888218,2	K562	blood:
8	chr17:37884020..37887628-chr17:37894260..37898735,4	K562	blood:
9	chr17:37885346..37888543-chr17:37891725..37895938,5	MCF-7	breast:
10	chr17:37885255..37888241-chr17:38082917..38084897,2	K562	blood:
11	chr17:37774543..37777330-chr17:37885224..37887436,2	K562	blood:
12	chr17:37855304..37857844-chr17:37885421..37887410,2	MCF-7	breast:
13	chr17:37861008..37863729-chr17:37884662..37888113,4	MCF-7	breast:
14	chr17:37879887..37888300-chr17:37891591..37897811,12	K562	blood:
15	chr17:37792754..37795170-chr17:37883979..37887971,4	K562	blood:
16	chr17:37871866..37874609-chr17:37884182..37887614,4	MCF-7	breast:
17	chr17:37773896..37776239-chr17:37886682..37888820,2	MCF-7	breast:
18	chr17:37886447..37886986-chr8:42948537..42949072,2	Hela-S3	cervix:
19	chr17:37792734..37794533-chr17:37886471..37888127,2	K562	blood:

Variant related genes	Relation type
MIEN1	TF binding region
ENSG00000161395	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000264968	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000185900	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000172057	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12936456	1.00[AMR][1000 genomes]
rs12943460	1.00[AMR][1000 genomes]
rs12950412	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12951747	0.89[AFR][1000 genomes]
rs35527921	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35938081	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252605	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252625	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252630	0.89[AFR][1000 genomes];1.00[AMR][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	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37883400-37887000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:37885600-37887200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:37885800-37887200	Flanking Active TSS	HMEC	breast
4	chr17:37886000-37887000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr17:37886000-37887200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr17:37886000-37887200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:37886000-37887200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:37886000-37887200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr17:37886000-37887200	Active TSS	Esophagus	oesophagus
10	chr17:37886000-37887200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr17:37886000-37887200	Active TSS	Gastric	stomach
12	chr17:37886000-37887200	Active TSS	Ovary	ovary
13	chr17:37886000-37887200	Active TSS	Psoas Muscle	Psoas
14	chr17:37886000-37887200	Active TSS	Right Ventricle	heart
15	chr17:37886000-37887400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:37886200-37887000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:37886200-37887200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr17:37886200-37887200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr17:37886200-37887200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:37886200-37887200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:37886200-37887200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:37886200-37887200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:37886200-37887200	Active TSS	Primary T cells from cord blood	blood
24	chr17:37886200-37887200	Active TSS	Brain Cingulate Gyrus	brain
25	chr17:37886200-37887200	Active TSS	Fetal Brain Female	brain
26	chr17:37886200-37887200	Active TSS	Fetal Kidney	kidney
27	chr17:37886200-37887200	Active TSS	Left Ventricle	heart
28	chr17:37886200-37887200	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr17:37886200-37887200	Active TSS	GM12878-XiMat	blood
30	chr17:37886200-37887200	Active TSS	HSMMtube	muscle
31	chr17:37886200-37887200	Active TSS	NHDF-Ad	bronchial
32	chr17:37886400-37887000	Active TSS	Spleen	Spleen
33	chr17:37886400-37887000	Active TSS	K562	blood
34	chr17:37886400-37887000	Active TSS	Osteobl	bone
35	chr17:37886400-37887200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr17:37886400-37887200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr17:37886400-37887200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:37886400-37887200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:37886400-37887200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:37886400-37887200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr17:37886400-37887200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr17:37886400-37887200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr17:37886400-37887200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:37886400-37887200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr17:37886400-37887200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:37886400-37887200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:37886400-37887200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:37886400-37887200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr17:37886400-37887200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr17:37886400-37887200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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