Variant report

Variant	rs73605127
Chromosome Location	chr19:55813707-55813708
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	RAD21	chr19:55813035-55813776	MCF-7	breast:	n/a	chr19:55813354-55813361 chr19:55813356-55813365 chr19:55813352-55813371
2	CTCF	chr19:55813640-55813790	WI-38	lung:	n/a	n/a
3	SP1	chr19:55813021-55813709	A549	lung:	n/a	chr19:55813396-55813405 chr19:55813578-55813590 chr19:55813579-55813588 chr19:55813395-55813407 chr19:55813218-55813227 chr19:55813218-55813227 chr19:55813580-55813589 chr19:55813217-55813226 chr19:55813578-55813590
4	CTCF	chr19:55813640-55813790	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr19:55812676-55813877	SK-N-SH	brain:	n/a	chr19:55813354-55813361 chr19:55813356-55813365 chr19:55813352-55813371
6	ZBTB7A	chr19:55812814-55813761	ECC-1	luminal epithelium:	n/a	chr19:55813030-55813044
7	POLR2A	chr19:55812959-55813712	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:55812864-55813849	PFSK-1	brain:	n/a	n/a
9	RAD21	chr19:55813009-55813782	A549	lung:	n/a	chr19:55813354-55813361 chr19:55813356-55813365 chr19:55813352-55813371
10	HCFC1	chr19:55812238-55813797	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr19:55813105-55813708	K562	blood:	n/a	chr19:55813385-55813394 chr19:55813351-55813369 chr19:55813353-55813374 chr19:55813352-55813368 chr19:55813356-55813364
12	ZBTB7A	chr19:55812735-55813873	ECC-1	luminal epithelium:	n/a	chr19:55813030-55813044
13	CTCF	chr19:55813015-55813841	SK-N-SH	brain:	n/a	chr19:55813385-55813394 chr19:55813351-55813369 chr19:55813353-55813374 chr19:55813352-55813368 chr19:55813356-55813364
14	CTCF	chr19:55812566-55814216	A549	lung:	n/a	chr19:55813385-55813394 chr19:55813351-55813369 chr19:55813353-55813374 chr19:55813352-55813368 chr19:55813356-55813364
15	REST	chr19:55812977-55813751	A549	lung:	n/a	n/a
16	CTCF	chr19:55813620-55813770	HFF-Myc	foreskin:	n/a	n/a
17	POLR2A	chr19:55812947-55813768	PFSK-1	brain:	n/a	n/a
18	MAZ	chr19:55813180-55813754	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr19:55813035-55813799	GM12878	blood:	n/a	n/a
20	SMC3	chr19:55812860-55813772	SK-N-SH	brain:	n/a	chr19:55813353-55813367
21	MTA3	chr19:55812877-55813780	GM12878	blood:	n/a	n/a
22	CTCF	chr19:55813140-55813727	GM12878	blood:	n/a	chr19:55813385-55813394 chr19:55813351-55813369 chr19:55813353-55813374 chr19:55813352-55813368 chr19:55813356-55813364
23	BCL3	chr19:55813064-55813721	A549	lung:	n/a	n/a
24	NRF1	chr19:55812920-55813954	SK-N-SH	brain:	n/a	chr19:55813396-55813405 chr19:55813278-55813287 chr19:55813278-55813289 chr19:55813321-55813335 chr19:55813326-55813335 chr19:55813324-55813335 chr19:55813275-55813289 chr19:55813324-55813335 chr19:55813324-55813338
25	RAD21	chr19:55813009-55813764	HCT-116	colon:	n/a	chr19:55813354-55813361 chr19:55813356-55813365 chr19:55813352-55813371
26	TCF12	chr19:55812742-55813934	A549	lung:	n/a	chr19:55813148-55813155
27	MAX	chr19:55813008-55813845	A549	lung:	n/a	n/a
28	POLR2A	chr19:55812882-55813716	U87	brain:	n/a	n/a
29	POLR2A	chr19:55813059-55813740	Raji	blood:	n/a	n/a
30	RAD21	chr19:55813071-55813781	A549	lung:	n/a	chr19:55813354-55813361 chr19:55813356-55813365 chr19:55813352-55813371
31	POLR2A	chr19:55812990-55813744	K562	blood:	n/a	n/a
32	RAD21	chr19:55813037-55813852	HCT-116	colon:	n/a	chr19:55813354-55813361 chr19:55813356-55813365 chr19:55813352-55813371
33	MAZ	chr19:55812930-55813861	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55811558..55817329-chr19:55895333..55899907,9	MCF-7	breast:
2	chr19:55813078..55815879-chr19:55851167..55852905,2	K562	blood:
3	chr19:55811782..55819446-chr19:55894353..55900958,7	K562	blood:
4	chr19:55811657..55813944-chr19:55896154..55898811,3	K562	blood:
5	chr19:55812021..55814783-chr19:55917656..55920430,5	MCF-7	breast:
6	chr19:55793274..55795541-chr19:55812526..55814100,2	MCF-7	breast:
7	chr19:55812251..55815650-chr19:55848570..55851424,4	MCF-7	breast:
8	chr19:55809572..55814180-chr19:55916301..55919700,7	K562	blood:
9	chr19:55813052..55817410-chr19:55850511..55853343,6	MCF-7	breast:
10	chr19:55808885..55818962-chr19:55893792..55900928,16	MCF-7	breast:
11	chr19:55811395..55814060-chr19:55915860..55921148,5	MCF-7	breast:
12	chr19:55813454..55816310-chr19:56151502..56153482,2	MCF-7	breast:

Variant related genes	Relation type
BRSK1	TF binding region
ENSG00000213015	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000267531	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17851414	1.00[AMR][1000 genomes]
rs59551167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60578937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7252420	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73605140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73605148	1.00[AMR][1000 genomes]
rs73605165	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73605195	1.00[AMR][1000 genomes]
rs73607029	1.00[AMR][1000 genomes]
rs73607052	1.00[AMR][1000 genomes]
rs73619590	1.00[AMR][1000 genomes]
rs73619602	1.00[AMR][1000 genomes]
rs73621321	1.00[AMR][1000 genomes]
rs73621332	1.00[AMR][1000 genomes]
rs73621334	1.00[AMR][1000 genomes]
rs73621343	1.00[AMR][1000 genomes]
rs73621359	1.00[AMR][1000 genomes]
rs73621364	1.00[AMR][1000 genomes]
rs73621369	1.00[AMR][1000 genomes]
rs73621370	1.00[AMR][1000 genomes]
rs9676742	1.00[AMR][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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS 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 miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55797000-55817800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:55797400-55824600	Weak transcription	Gastric	stomach
3	chr19:55807800-55814200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:55809200-55814000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:55811800-55817600	Weak transcription	Aorta	Aorta
6	chr19:55812200-55813800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:55812200-55813800	Genic enhancers	Brain Angular Gyrus	brain
8	chr19:55812600-55813800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr19:55812600-55813800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:55812600-55813800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:55812600-55813800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
12	chr19:55812800-55813800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:55812800-55813800	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr19:55812800-55813800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr19:55812800-55813800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:55812800-55813800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr19:55812800-55813800	Flanking Active TSS	Hela-S3	cervix
18	chr19:55812800-55813800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr19:55812800-55813800	Flanking Active TSS	NHEK	skin
20	chr19:55812800-55814200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:55812800-55814200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:55812800-55814200	Enhancers	Spleen	Spleen
23	chr19:55812800-55814200	Flanking Active TSS	Dnd41	blood
24	chr19:55813000-55813800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:55813000-55813800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:55813000-55813800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr19:55813000-55813800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr19:55813000-55813800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:55813000-55813800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr19:55813000-55813800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr19:55813000-55813800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr19:55813000-55813800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr19:55813000-55813800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:55813000-55813800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr19:55813000-55813800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:55813000-55813800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr19:55813000-55813800	Active TSS	Fetal Kidney	kidney
38	chr19:55813000-55813800	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr19:55813000-55813800	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr19:55813000-55813800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr19:55813000-55813800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr19:55813000-55813800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr19:55813000-55814000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr19:55813000-55814000	Active TSS	Primary T cells from cord blood	blood
45	chr19:55813000-55814000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr19:55813000-55814000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:55813000-55814000	Flanking Active TSS	Fetal Thymus	thymus
48	chr19:55813200-55813800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:55813200-55813800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:55813200-55813800	Active TSS	Colonic Mucosa	Colon

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