Variant report

Variant	rs365769
Chromosome Location	chr19:44439099-44439100
allele	G/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	ETS1	chr19:44439012-44439926	A549	lung:	n/a	chr19:44439422-44439431 chr19:44439510-44439520 chr19:44439707-44439720 chr19:44439497-44439508 chr19:44439509-44439518 chr19:44439415-44439431 chr19:44439455-44439468 chr19:44439422-44439433 chr19:44439509-44439520 chr19:44439520-44439533 chr19:44439423-44439433 chr19:44439454-44439467 chr19:44439483-44439490
2	POLR2A	chr19:44439033-44440063	HepG2	liver:	n/a	n/a
3	MAZ	chr19:44438950-44439853	K562	blood:	n/a	n/a
4	CTCF	chr19:44439015-44439159	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr19:44439000-44439150	SK-N-SH_RA	brain:	n/a	n/a
6	SPI1	chr19:44439007-44439854	HL-60	blood:	n/a	n/a
7	CTCF	chr19:44439083-44439145	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:44438871-44439765	MCF10A-Er-Src	breast:	n/a	n/a
9	TAF1	chr19:44439022-44439963	H1-hESC	embryonic stem cell:	n/a	n/a
10	GABPA	chr19:44438817-44440161	A549	lung:	n/a	chr19:44439497-44439506
11	POLR2A	chr19:44439047-44439765	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr19:44439040-44439190	GM12872	blood:	n/a	n/a
13	MAX	chr19:44439000-44439887	K562	blood:	n/a	n/a
14	POLR2A	chr19:44439083-44439844	PANC-1	pancreas:	n/a	n/a
15	ELF1	chr19:44438975-44439872	MCF-7	breast:	n/a	chr19:44439418-44439431 chr19:44439263-44439275
16	POLR2A	chr19:44438976-44439945	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr19:44439000-44439150	AG04450	lung:	n/a	n/a
18	SIN3AK20	chr19:44439068-44439722	A549	lung:	n/a	n/a
19	CHD2	chr19:44439075-44439850	K562	blood:	n/a	n/a
20	POLR2A	chr19:44438968-44439972	SK-N-MC	brain:	n/a	n/a
21	CTCF	chr19:44439000-44439150	HEK293	kidney:	n/a	n/a
22	CTCF	chr19:44439082-44439108	GM13977	blood:	n/a	n/a
23	CTCF	chr19:44439050-44439293	MCF-7	breast:	n/a	chr19:44439265-44439278
24	BCLAF1	chr19:44439099-44439875	GM12878	blood:	n/a	chr19:44439269-44439278 chr19:44439509-44439518 chr19:44439485-44439498
25	POLR2A	chr19:44438957-44439988	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:44439060-44439784	HepG2	liver:	n/a	n/a
27	CTCF	chr19:44439040-44439190	NHEK	skin:	n/a	n/a
28	YY1	chr19:44439054-44439648	HepG2	liver:	n/a	chr19:44439497-44439506
29	JUND	chr19:44439021-44439808	K562	blood:	n/a	chr19:44439761-44439773 chr19:44439368-44439379 chr19:44439565-44439574
30	POLR2A	chr19:44439077-44439681	K562	blood:	n/a	n/a
31	CTCF	chr19:44439020-44439170	HEK293	kidney:	n/a	n/a
32	GATA3	chr19:44438899-44440131	A549	lung:	n/a	chr19:44439290-44439300
33	ELF1	chr19:44439017-44439765	K562	blood:	n/a	chr19:44439418-44439431 chr19:44439263-44439275
34	POLR2A	chr19:44439093-44439646	A549	lung:	n/a	n/a
35	GABPA	chr19:44439038-44439821	HepG2	liver:	n/a	chr19:44439497-44439506
36	POLR2A	chr19:44439024-44439787	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr19:44439065-44439777	ProgFib	skin:	n/a	n/a
38	SREBP1	chr19:44438244-44440460	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:44439052-44439790	H1-neurons	neurons:	n/a	n/a
40	CTCF	chr19:44439000-44439150	Hela-S3	cervix:	n/a	n/a
41	RUNX3	chr19:44438989-44439844	GM12878	blood:	n/a	n/a
42	ZNF263	chr19:44438242-44439825	HEK293-T-REx	kidney:	n/a	chr19:44438663-44438684
43	POLR2A	chr19:44438925-44439734	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr19:44438980-44439130	AG04449	skin:	n/a	n/a
45	RFX5	chr19:44439053-44439598	HepG2	liver:	n/a	n/a
46	MAX	chr19:44439059-44439748	Hela-S3	cervix:	n/a	n/a
47	SIX5	chr19:44438825-44440079	A549	lung:	n/a	chr19:44439458-44439467 chr19:44439456-44439465 chr19:44439454-44439468
48	CTCF	chr19:44438980-44439130	HMEC	breast:	n/a	n/a
49	ETS1	chr19:44438724-44440014	A549	lung:	n/a	chr19:44439422-44439431 chr19:44439510-44439520 chr19:44439707-44439720 chr19:44439497-44439508 chr19:44439509-44439518 chr19:44439415-44439431 chr19:44439455-44439468 chr19:44439422-44439433 chr19:44439509-44439520 chr19:44439520-44439533 chr19:44439423-44439433 chr19:44439454-44439467 chr19:44439483-44439490
50	POLR2A	chr19:44439042-44439833	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44405165..44406844-chr19:44438913..44440753,2	K562	blood:
2	chr19:44330249..44332710-chr19:44437495..44440338,2	MCF-7	breast:
3	chr19:44438985..44440520-chr19:44510451..44513064,2	MCF-7	breast:
4	chr19:44330466..44332260-chr19:44438054..44440025,2	K562	blood:

Variant related genes	Relation type
ZNF45	TF binding region
ENSG00000267191	Chromatin interaction
ENSG00000159882	Chromatin interaction
ENSG00000267058	Chromatin interaction
ENSG00000176222	Chromatin interaction
ENSG00000167637	Chromatin interaction
ENSG00000159871	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs364378	0.87[AMR][1000 genomes]
rs364693	0.87[AMR][1000 genomes]
rs367056	0.89[AMR][1000 genomes]
rs367241	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs373043	0.89[AMR][1000 genomes]
rs376769	0.87[AMR][1000 genomes]
rs379722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs382715	0.87[AMR][1000 genomes]
rs384432	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs393403	0.85[AFR][1000 genomes]
rs393473	0.85[AFR][1000 genomes]
rs395143	0.87[AMR][1000 genomes]
rs424364	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs441225	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs442934	0.89[AMR][1000 genomes]
rs446072	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs452143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs453611	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs461374	0.87[AMR][1000 genomes]
rs465860	0.87[AMR][1000 genomes]
rs8101844	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44438000-44439200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr19:44438000-44439200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:44438000-44439800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:44438000-44440000	Active TSS	GM12878-XiMat	blood
5	chr19:44438000-44440000	Active TSS	NHLF	lung
6	chr19:44438200-44439200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:44438200-44439800	Active TSS	Hela-S3	cervix
8	chr19:44438200-44440000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44438200-44440200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr19:44438200-44440200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:44438200-44440200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr19:44438200-44440200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:44438200-44440200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr19:44438200-44440200	Active TSS	Psoas Muscle	Psoas
15	chr19:44438200-44440600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:44438400-44439200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr19:44438400-44439800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:44438400-44439800	Active TSS	Fetal Kidney	kidney
19	chr19:44438400-44439800	Active TSS	Lung	lung
20	chr19:44438400-44440000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:44438400-44440000	Active TSS	Right Atrium	heart
22	chr19:44438400-44440000	Active TSS	Right Ventricle	heart
23	chr19:44438400-44440200	Active TSS	Fetal Intestine Small	intestine
24	chr19:44438600-44439200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:44438600-44439600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:44438600-44439800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:44438600-44439800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:44438600-44439800	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr19:44438600-44440000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr19:44438600-44440000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr19:44438600-44440000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:44438600-44440000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:44438600-44440000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:44438600-44440000	Active TSS	Aorta	Aorta
35	chr19:44438600-44440000	Active TSS	Fetal Brain Female	brain
36	chr19:44438600-44440000	Active TSS	NHDF-Ad	bronchial
37	chr19:44438600-44440200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr19:44438600-44440600	Active TSS	Thymus	Thymus
39	chr19:44438800-44439200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:44438800-44439200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
41	chr19:44438800-44439600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:44438800-44439600	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr19:44438800-44439600	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr19:44438800-44439600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr19:44438800-44439600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:44438800-44439600	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr19:44438800-44439600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:44438800-44439600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr19:44438800-44439600	Active TSS	Dnd41	blood
50	chr19:44438800-44439800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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