Variant report

Variant	rs66570061
Chromosome Location	chr6:36922026-36922027
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	STAT5A	chr6:36921771-36922472	K562	blood:	n/a	chr6:36922166-36922177 chr6:36922440-36922452
2	RCOR1	chr6:36921720-36922530	K562	blood:	n/a	n/a
3	ATF1	chr6:36921885-36922333	K562	blood:	n/a	n/a
4	GATA2	chr6:36921981-36922373	HUVEC	blood vessel:	n/a	chr6:36922173-36922189 chr6:36922173-36922189 chr6:36922177-36922184 chr6:36922178-36922195 chr6:36922177-36922184 chr6:36922177-36922184 chr6:36922170-36922191
5	NR2F2	chr6:36921804-36922442	K562	blood:	n/a	n/a
6	HDAC2	chr6:36921665-36922423	K562	blood:	n/a	n/a
7	ATF3	chr6:36921849-36922293	K562	blood:	n/a	n/a
8	TRIM28	chr6:36921734-36922458	K562	blood:	n/a	n/a
9	TEAD4	chr6:36921622-36922652	K562	blood:	n/a	n/a
10	GATA2	chr6:36921880-36922376	K562	blood:	n/a	chr6:36922173-36922189 chr6:36922173-36922189 chr6:36922177-36922184 chr6:36922178-36922195 chr6:36922177-36922184 chr6:36922177-36922184 chr6:36922170-36922191
11	MYC	chr6:36921857-36922383	K562	blood:	n/a	n/a
12	SPI1	chr6:36922001-36922217	K562	blood:	n/a	chr6:36922099-36922106
13	POLR2A	chr6:36921825-36922394	HL-60	blood:	n/a	n/a
14	ZKSCAN1	chr6:36921756-36922068	Hela-S3	cervix:	n/a	n/a
15	JUN	chr6:36921191-36922960	K562	blood:	n/a	n/a
16	REST	chr6:36921969-36922394	HL-60	blood:	n/a	chr6:36922263-36922272
17	TBL1XR1	chr6:36921835-36922350	K562	blood:	n/a	n/a
18	CEBPD	chr6:36921777-36922466	K562	blood:	n/a	n/a
19	ARID3A	chr6:36921881-36922254	K562	blood:	n/a	n/a
20	CEBPB	chr6:36921910-36922363	K562	blood:	n/a	n/a
21	ELF1	chr6:36921988-36922313	K562	blood:	n/a	n/a
22	GATA1	chr6:36921825-36922394	PBDE	blood:	n/a	chr6:36922173-36922189 chr6:36922173-36922189 chr6:36922177-36922184 chr6:36922178-36922195 chr6:36922177-36922184 chr6:36922177-36922184 chr6:36922170-36922191
23	POLR2A	chr6:36922017-36922387	K562	blood:	n/a	n/a
24	HDAC2	chr6:36921816-36922461	K562	blood:	n/a	n/a
25	POLR2A	chr6:36921935-36922332	K562	blood:	n/a	n/a
26	HMGN3	chr6:36921956-36922632	K562	blood:	n/a	n/a
27	EGR1	chr6:36921945-36922300	K562	blood:	n/a	n/a
28	HCFC1	chr6:36921982-36922327	K562	blood:	n/a	n/a
29	STAT5A	chr6:36921930-36922373	K562	blood:	n/a	chr6:36922166-36922177
30	GABPA	chr6:36921943-36922494	HL-60	blood:	n/a	n/a
31	GATA2	chr6:36921833-36922367	K562	blood:	n/a	chr6:36922173-36922189 chr6:36922173-36922189 chr6:36922177-36922184 chr6:36922178-36922195 chr6:36922177-36922184 chr6:36922177-36922184 chr6:36922170-36922191
32	RCOR1	chr6:36921746-36922593	K562	blood:	n/a	n/a
33	POLR2A	chr6:36922015-36922307	K562	blood:	n/a	n/a
34	MAZ	chr6:36921883-36922413	K562	blood:	n/a	n/a
35	CEBPD	chr6:36921755-36922331	K562	blood:	n/a	n/a
36	POLR2A	chr6:36921868-36922444	HL-60	blood:	n/a	n/a
37	ZMIZ1	chr6:36921937-36922377	K562	blood:	n/a	n/a
38	PML	chr6:36921730-36922454	K562	blood:	n/a	n/a
39	JUN	chr6:36921922-36922289	K562	blood:	n/a	n/a
40	CUX1	chr6:36921919-36922253	K562	blood:	n/a	n/a
41	MAFF	chr6:36921977-36922301	K562	blood:	n/a	n/a
42	GABPA	chr6:36921887-36922414	K562	blood:	n/a	n/a
43	IRF1	chr6:36921952-36922319	K562	blood:	n/a	chr6:36922165-36922178 chr6:36922165-36922179
44	FOSL1	chr6:36921941-36922293	K562	blood:	n/a	n/a
45	ETS1	chr6:36921918-36922235	GM12878	blood:	n/a	n/a
46	TRIM28	chr6:36921968-36922307	K562	blood:	n/a	n/a
47	EP300	chr6:36921883-36922417	K562	blood:	n/a	n/a
48	GATA2	chr6:36921819-36922458	K562	blood:	n/a	chr6:36922173-36922189 chr6:36922173-36922189 chr6:36922177-36922184 chr6:36922178-36922195 chr6:36922177-36922184 chr6:36922177-36922184 chr6:36922170-36922191
49	SPI1	chr6:36921989-36922347	HL-60	blood:	n/a	chr6:36922099-36922106
50	RFX5	chr6:36921990-36922097	K562	blood:	n/a	n/a

Variant related genes	Relation type
PI16	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12525985	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12664695	0.91[EUR][1000 genomes]
rs13214150	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1571397	0.96[ASN][1000 genomes]
rs16889316	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34165286	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35349900	0.89[EUR][1000 genomes]
rs4711475	0.85[ASN][1000 genomes]
rs4711476	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4714025	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56302603	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs56322497	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs68028411	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs697747	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs697748	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs707998	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs707999	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs831507	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9470444	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv519499	chr6:36915906-36924102	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522653	chr6:36915906-36925774	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36898600-36922200	Weak transcription	Right Atrium	heart
2	chr6:36916000-36923000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:36916200-36922600	Weak transcription	Brain Anterior Caudate	brain
4	chr6:36916200-36923000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:36917600-36922400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:36917600-36931200	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:36918000-36923000	Weak transcription	Brain Substantia Nigra	brain
8	chr6:36918000-36924000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:36918200-36922800	Weak transcription	Hela-S3	cervix
10	chr6:36918200-36923000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:36918200-36923000	Weak transcription	NHEK	skin
12	chr6:36918200-36923200	Weak transcription	NH-A	brain
13	chr6:36918200-36927800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:36918200-36928400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:36920800-36922200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr6:36921000-36922200	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:36921400-36922200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:36921400-36922200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:36921400-36922400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr6:36921400-36922800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:36921400-36923200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:36921400-36924000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:36921400-36924200	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:36921400-36924400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:36921400-36924400	Enhancers	Thymus	Thymus
26	chr6:36921400-36925000	Enhancers	Fetal Thymus	thymus
27	chr6:36921600-36922200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:36921600-36922200	Enhancers	Spleen	Spleen
29	chr6:36921600-36922400	Enhancers	HUVEC	blood vessel
30	chr6:36921600-36923200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:36921600-36924400	Enhancers	Fetal Heart	heart
32	chr6:36921600-36925000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr6:36921800-36922200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:36921800-36922200	Enhancers	GM12878-XiMat	blood
35	chr6:36921800-36922400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr6:36921800-36922400	Enhancers	K562	blood
37	chr6:36921800-36922600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr6:36921800-36923600	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr6:36921800-36923600	Enhancers	Dnd41	blood
40	chr6:36921800-36923800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:36921800-36923800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:36921800-36926200	Enhancers	Stomach Mucosa	stomach
43	chr6:36921800-36931200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:36922000-36922600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr6:36922000-36923000	Weak transcription	Left Ventricle	heart
46	chr6:36922000-36924000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr6:36922000-36924200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr6:36922000-36924200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr6:36922000-36931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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