Variant report

Variant	rs1065341
Chromosome Location	chr17:34198593-34198594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:34198540-34198690	GM12868	blood:	n/a	n/a
2	CTCF	chr17:34198581-34198637	GM12891	blood:	n/a	n/a
3	TBP	chr17:34198541-34198695	H1-hESC	embryonic stem cell:	n/a	n/a
4	SPI1	chr17:34198416-34198792	HL-60	blood:	n/a	n/a
5	ELF1	chr17:34198478-34198730	K562	blood:	n/a	n/a
6	CTCF	chr17:34198540-34198690	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr17:34198520-34198670	HCFaa	heart:	n/a	n/a
8	CTCF	chr17:34198540-34198690	NB4	blood:	n/a	n/a
9	SPI1	chr17:34198512-34198735	K562	blood:	n/a	n/a
10	CTCF	chr17:34198509-34198708	K562	blood:	n/a	n/a
11	POLR2A	chr17:34198471-34198882	PFSK-1	brain:	n/a	n/a
12	CTCF	chr17:34198540-34198690	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr17:34198520-34198670	GM12875	blood:	n/a	n/a
14	CTCF	chr17:34198501-34198681	K562	blood:	n/a	n/a
15	RAD21	chr17:34198523-34198720	GM12878	blood:	n/a	n/a
16	CTCF	chr17:34198520-34198670	GM12873	blood:	n/a	n/a
17	CTCF	chr17:34198520-34198670	HL-60	blood:	n/a	n/a
18	CTCF	chr17:34198547-34198653	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr17:34198560-34198710	GM12801	blood:	n/a	n/a
20	CTCF	chr17:34198460-34198610	HepG2	liver:	n/a	n/a
21	CTCF	chr17:34198540-34198690	K562	blood:	n/a	n/a
22	CTCF	chr17:34198540-34198690	GM12873	blood:	n/a	n/a
23	CTCF	chr17:34198540-34198690	GM12866	blood:	n/a	n/a
24	CTCF	chr17:34198536-34198672	H1-hESC	embryonic stem cell:	n/a	n/a
25	SPI1	chr17:34198488-34198807	HL-60	blood:	n/a	n/a
26	CTCF	chr17:34198580-34198730	GM12874	blood:	n/a	n/a
27	RAD21	chr17:34198504-34198778	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:34198500-34198650	HEK293	kidney:	n/a	n/a
29	CTCF	chr17:34198592-34198632	GM19238	blood:	n/a	n/a
30	CTCF	chr17:34198540-34198690	HRPEpiC	eye:	n/a	n/a
31	ZNF143	chr17:34198575-34198622	K562	blood:	n/a	n/a
32	RAD21	chr17:34198526-34198688	K562	blood:	n/a	n/a
33	CTCF	chr17:34198525-34198668	Medullo	brain:	n/a	n/a
34	CTCF	chr17:34198560-34198710	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr17:34198460-34198610	K562	blood:	n/a	n/a
36	CTCF	chr17:34198520-34198670	MCF-7	breast:	n/a	n/a
37	CTCF	chr17:34198480-34198630	GM12872	blood:	n/a	n/a
38	CTCF	chr17:34198488-34198699	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr17:34198586-34198634	MCF-7	breast:	n/a	n/a
40	CTCF	chr17:34198572-34198665	MCF-7	breast:	n/a	n/a
41	CTCF	chr17:34198520-34198670	GM12870	blood:	n/a	n/a
42	CTCF	chr17:34198446-34198743	K562	blood:	n/a	n/a
43	CTCF	chr17:34198520-34198670	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr17:34198480-34198630	GM12871	blood:	n/a	n/a
45	TAF1	chr17:34198462-34198753	PFSK-1	brain:	n/a	n/a
46	CTCF	chr17:34198500-34198650	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr17:34198589-34198657	GM12878	blood:	n/a	n/a
48	CTCF	chr17:34198520-34198670	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr17:34198540-34198690	GM12867	blood:	n/a	n/a
50	CTCF	chr17:34198560-34198710	GM12869	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:34198571-34198621	Jurkat	blood:	n/a
2	chr17:34198571-34198621	Caco-2	colon:	n/a
3	chr17:34198571-34198621	HNPCEpiC	eye:	n/a
4	chr17:34198571-34198621	HCM	heart:	n/a
5	chr17:34198571-34198621	Hela-S3	cervix:	n/a
6	chr17:34198571-34198621	NHBE	bronchial:	n/a
7	chr17:34198571-34198621	AG04450	lung:	fetal
8	chr17:34198571-34198621	ProgFib	skin:	n/a
9	chr17:34198571-34198621	HPAEpiC	pulmonary alveolar:	n/a
10	chr17:34198571-34198621	SK-N-SH_RA	brain:	n/a
11	chr17:34198571-34198621	GM12892	blood:	n/a
12	chr17:34198571-34198621	HEEpiC	esophagus:	n/a
13	chr17:34198571-34198621	HCPEpiC	choroid plexus:	n/a
14	chr17:34198571-34198621	AG10803	skin:	n/a
15	chr17:34198571-34198621	AG04449	skin:	fetal
16	chr17:34198571-34198621	HRCEpiC	kidney:	n/a
17	chr17:34198571-34198621	SAEC	small airway:	n/a
18	chr17:34198571-34198621	SKMC	muscle:	n/a
19	chr17:34198571-34198621	LNCaP	prostate:	n/a
20	chr17:34198571-34198621	AoSMC	blood vessel:	n/a
21	chr17:34198571-34198621	ECC-1	luminal epithelium:	n/a
22	chr17:34198571-34198621	HepG2	liver:	n/a
23	chr17:34198571-34198621	HMEC	breast:	n/a
24	chr17:34198571-34198621	BJ	skin:	n/a
25	chr17:34198571-34198621	IMR90	lung:	fetal
26	chr17:34198571-34198621	PrEC	prostate:	n/a
27	chr17:34198571-34198621	HEK293	kidney:	embryo
28	chr17:34198571-34198621	MCF10A-Er-Src	breast:	n/a
29	chr17:34198571-34198621	BE2_C	brain:	n/a
30	chr17:34198571-34198621	HCF	heart:	n/a
31	chr17:34198571-34198621	GM19239	blood:	n/a
32	chr17:34198571-34198621	HUVEC	blood vessel:	n/a
33	chr17:34198571-34198621	PFSK-1	brain:	n/a
34	chr17:34198571-34198621	HIPEpiC	eye:	n/a
35	chr17:34198571-34198621	AG09319	gingival:	n/a
36	chr17:34198571-34198621	HCT-116	colon:	n/a
37	chr17:34198571-34198621	HRE	kidney:	n/a
38	chr17:34198571-34198621	SK-N-SH	brain:	n/a
39	chr17:34198571-34198621	SK-N-MC	brain:	n/a
40	chr17:34198571-34198621	H1-hESC	embryonic stem cell:	embryo
41	chr17:34198571-34198621	U87	brain:	n/a
42	chr17:34198571-34198621	GM12878	blood:	n/a
43	chr17:34198571-34198621	NHDF-neo	bronchial:	n/a
44	chr17:34198571-34198621	K562	blood:	n/a
45	chr17:34198571-34198621	RPTEC	kidney:	n/a
46	chr17:34198571-34198621	NT2-D1	testis:	n/a
47	chr17:34198571-34198621	HRPEpiC	eye:	n/a
48	chr17:34198571-34198621	GM06990	blood:	n/a
49	chr17:34198571-34198621	NH-A	brain:	n/a
50	chr17:34198571-34198621	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34196970..34199570-chr17:34207098..34208624,2	K562	blood:

No data

Variant related genes	Relation type
C17orf66	TF binding region
C17orf66	CpG island
ENSG00000161570	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10451309	1.00[TSI][hapmap]
rs16963927	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971570	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971585	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971624	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2735479	0.95[EUR][1000 genomes]
rs2735482	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2735483	0.95[EUR][1000 genomes]
rs28912069	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28914812	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914818	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251704	1.00[TSI][hapmap]
rs4251710	1.00[TSI][hapmap]
rs4251744	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59536691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61590868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7209512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224965	0.97[EUR][1000 genomes]
rs8073456	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs965984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9674851	1.00[CEU][hapmap]
rs9895464	1.00[CEU][hapmap]
rs9896368	0.87[TSI][hapmap]
rs9898128	1.00[CEU][hapmap]
rs9914929	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34175600-34202400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr17:34177200-34202400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:34179000-34203800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:34180800-34202000	Weak transcription	GM12878-XiMat	blood
5	chr17:34185800-34206800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:34186800-34201600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:34192200-34218000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:34192400-34213200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:34193800-34201600	Weak transcription	HSMMtube	muscle
10	chr17:34194000-34205800	Weak transcription	K562	blood
11	chr17:34197800-34202400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:34198000-34198800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr17:34198000-34198800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr17:34198000-34199400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr17:34198000-34200000	Enhancers	Primary T cells from cord blood	blood
16	chr17:34198200-34198600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr17:34198200-34198600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:34198200-34198600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr17:34198200-34198600	Enhancers	Adipose Nuclei	Adipose
20	chr17:34198200-34198800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr17:34198200-34198800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:34198200-34198800	Enhancers	HUVEC	blood vessel
23	chr17:34198200-34198800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr17:34198200-34199000	Enhancers	Fetal Thymus	thymus
25	chr17:34198200-34199400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr17:34198200-34199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:34198200-34199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:34198200-34199600	Enhancers	Spleen	Spleen
29	chr17:34198200-34202200	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr17:34198400-34198800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr17:34198400-34198800	Enhancers	Primary B cells from peripheral blood	blood
32	chr17:34198400-34198800	Enhancers	Fetal Muscle Leg	muscle
33	chr17:34198400-34198800	Enhancers	Placenta	Placenta
34	chr17:34198400-34202400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:34198400-34205400	Weak transcription	Pancreas	Pancrea

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