Variant report

Variant	rs17860869
Chromosome Location	chr6:167555941-167555942
allele	C/T
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	POU2F2	chr6:167555674-167555958	GM12891	blood:	n/a	n/a
2	CTCF	chr6:167555560-167556149	MCF-7	breast:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
3	STAT1	chr6:167555677-167555953	GM12878	blood:	n/a	n/a
4	YY1	chr6:167555566-167555980	HepG2	liver:	n/a	n/a
5	RAD21	chr6:167555561-167556145	A549	lung:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
6	MBD4	chr6:167555510-167556108	HepG2	liver:	n/a	n/a
7	SMC3	chr6:167555558-167556064	HepG2	liver:	n/a	chr6:167555841-167555855
8	MAX	chr6:167555735-167555962	K562	blood:	n/a	n/a
9	NRF1	chr6:167555524-167556053	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr6:167555800-167555950	HL-60	blood:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
11	MXI1	chr6:167555416-167556197	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr6:167555800-167555950	GM12870	blood:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
13	CTCF	chr6:167555586-167556094	HepG2	liver:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
14	RAD21	chr6:167555584-167556074	SK-N-SH_RA	brain:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
15	MYC	chr6:167555697-167555966	K562	blood:	n/a	n/a
16	CTCF	chr6:167555800-167555950	HUVEC	blood vessel:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
17	EP300	chr6:167555506-167555952	GM12878	blood:	n/a	chr6:167555861-167555877
18	MAX	chr6:167555641-167556112	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr6:167555598-167556012	HepG2	liver:	n/a	n/a
20	CTCF	chr6:167555800-167555950	HAc	cerebellar:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
21	RAD21	chr6:167555592-167556066	A549	lung:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
22	RAD21	chr6:167555605-167556047	SK-N-SH_RA	brain:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
23	ZNF143	chr6:167555724-167556009	K562	blood:	n/a	n/a
24	CTCF	chr6:167555628-167556008	HepG2	liver:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
25	SIN3A	chr6:167555713-167556016	H1-hESC	embryonic stem cell:	n/a	chr6:167555868-167555877
26	CTCF	chr6:167555700-167555981	Medullo	brain:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
27	CTCF	chr6:167555761-167555960	GM20000	blood:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
28	SMC3	chr6:167555216-167556075	GM12878	blood:	n/a	chr6:167555841-167555855
29	YY1	chr6:167555743-167555958	GM12892	blood:	n/a	n/a
30	CTCF	chr6:167555714-167555989	Gliobla	brain:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
31	STAT3	chr6:167555817-167556114	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr6:167555820-167555970	AG09319	gingival:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
33	CTCF	chr6:167555800-167555950	HPF	lung:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
34	MXI1	chr6:167555667-167555988	GM12878	blood:	n/a	n/a
35	CTCF	chr6:167555748-167555969	Hela-S3	cervix:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
36	RAD21	chr6:167555442-167556163	HepG2	liver:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
37	CTCF	chr6:167555736-167555980	Kidney_OC	kidney:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
38	CTCF	chr6:167555712-167555988	Pancreas_OC	pancreas:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
39	CTCF	chr6:167555800-167555950	NB4	blood:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
40	WRNIP1	chr6:167555650-167555981	GM12878	blood:	n/a	n/a
41	CTCF	chr6:167555820-167555970	HCFaa	heart:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
42	CTCF	chr6:167555800-167555950	GM06990	blood:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
43	RAD21	chr6:167555561-167556041	MCF-7	breast:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
44	CTCF	chr6:167555469-167556105	A549	lung:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
45	RAD21	chr6:167555565-167556067	H1-hESC	embryonic stem cell:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
46	ZNF143	chr6:167555650-167556030	GM12878	blood:	n/a	n/a
47	CTCF	chr6:167555452-167556254	SK-N-SH	brain:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
48	RAD21	chr6:167555628-167556065	GM12878	blood:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
49	RAD21	chr6:167555641-167555968	K562	blood:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
50	CTCF	chr6:167555712-167555989	MCF-7	breast:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857

No.	Distal block	Cell Line	Cell type
1	chr6:167200031..167200812-chr6:167555407..167555996,2	K562	blood:
2	chr6:167410903..167412089-chr6:167555232..167556268,5	MCF-7	breast:
3	chr6:167188755..167189454-chr6:167555413..167556221,2	MCF-7	breast:
4	chr6:167185783..167186302-chr6:167555369..167556350,2	K562	blood:
5	chr6:167187969..167188996-chr6:167555512..167556325,4	MCF-7	breast:

Variant related genes	Relation type
TCP10L2	TF binding region
ENSG00000265828	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17860856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17860864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3093014	0.93[EUR][1000 genomes]
rs41459951	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
6	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1018193	chr6:167491589-167797294	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv538544	chr6:167491589-167797294	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv469673	chr6:167500376-167658532	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv482439	chr6:167500376-167658532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2758094	chr6:167501204-167845935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759492	chr6:167501204-168176733	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv482873	chr6:167521620-167679133	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv7999	chr6:167552715-167558308	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167534000-167573400	Weak transcription	Right Atrium	heart
2	chr6:167543400-167565000	Weak transcription	Spleen	Spleen
3	chr6:167550600-167560400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:167551200-167559600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:167552600-167556200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:167552800-167560800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:167553000-167556000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:167553000-167558800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:167554000-167556600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:167554400-167556200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:167554400-167556200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:167554600-167556000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr6:167554600-167556000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:167554800-167556000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr6:167554800-167559200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:167555000-167556000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:167555000-167556000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:167555000-167558000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:167555200-167556400	Enhancers	Primary B cells from cord blood	blood
20	chr6:167555400-167556000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:167555400-167556000	Enhancers	Colon Smooth Muscle	Colon
22	chr6:167555400-167556000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr6:167555400-167556800	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:167555400-167558200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:167555600-167556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:167555800-167559600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:167555800-167559800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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