Variant report

Variant	rs73621334
Chromosome Location	chr19:55769632-55769633
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	UBTF	chr19:55768656-55771041	K562	blood:	n/a	n/a
2	SIN3AK20	chr19:55768209-55771137	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:55769363-55769804	GM12878	blood:	n/a	n/a
4	REST	chr19:55769162-55771383	H1-neurons	neurons:	n/a	chr19:55769581-55769594 chr19:55769348-55769368
5	BHLHE40	chr19:55769572-55769670	K562	blood:	n/a	n/a
6	ZBTB7A	chr19:55769585-55770441	ECC-1	luminal epithelium:	n/a	n/a
7	ELF1	chr19:55768714-55771361	GM12878	blood:	n/a	chr19:55769295-55769304 chr19:55770446-55770458 chr19:55770320-55770332 chr19:55770073-55770085 chr19:55769296-55769308 chr19:55770333-55770345
8	MAZ	chr19:55769614-55771075	K562	blood:	n/a	chr19:55770411-55770421 chr19:55769750-55769759
9	RCOR1	chr19:55769590-55769790	GM12878	blood:	n/a	n/a
10	NRF1	chr19:55769266-55771044	SK-N-SH	brain:	n/a	chr19:55770536-55770547 chr19:55770476-55770490 chr19:55770449-55770458 chr19:55770536-55770547 chr19:55770434-55770448 chr19:55770479-55770490
11	ZMIZ1	chr19:55769516-55769661	K562	blood:	n/a	n/a
12	ZBTB7A	chr19:55769440-55770917	K562	blood:	n/a	n/a
13	ZBTB7A	chr19:55769153-55770948	K562	blood:	n/a	n/a
14	HCFC1	chr19:55769257-55771331	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr19:55769559-55771030	GM12878	blood:	n/a	n/a
16	SMARCB1	chr19:55768503-55771011	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr19:55769496-55771180	HepG2	liver:	n/a	n/a
18	MAX	chr19:55767994-55769837	K562	blood:	n/a	chr19:55769750-55769759 chr19:55768523-55768532
19	POLR2A	chr19:55769600-55771470	HL-60	blood:	n/a	n/a
20	MAZ	chr19:55768682-55771570	IMR90	lung:	n/a	chr19:55770411-55770421 chr19:55769750-55769759
21	POLR2A	chr19:55769596-55771432	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:55769616-55771419	GM12892	blood:	n/a	n/a
23	JUN	chr19:55769568-55771494	K562	blood:	n/a	chr19:55769809-55769818 chr19:55770747-55770761 chr19:55770448-55770457 chr19:55770639-55770653 chr19:55769810-55769819
24	MAZ	chr19:55768527-55771142	GM12878	blood:	n/a	chr19:55770411-55770421 chr19:55769750-55769759
25	RCOR1	chr19:55768381-55771561	IMR90	lung:	n/a	n/a
26	MXI1	chr19:55768383-55771353	IMR90	lung:	n/a	n/a
27	SIN3AK20	chr19:55769415-55770141	K562	blood:	n/a	n/a
28	POLR2A	chr19:55769612-55769650	HepG2	liver:	n/a	n/a
29	BACH1	chr19:55769529-55770910	H1-hESC	embryonic stem cell:	n/a	n/a
30	NRF1	chr19:55769555-55770925	GM12878	blood:	n/a	chr19:55770536-55770547 chr19:55770476-55770490 chr19:55770449-55770458 chr19:55770536-55770547 chr19:55770434-55770448 chr19:55770479-55770490
31	POLR2A	chr19:55769489-55771613	K562	blood:	n/a	n/a
32	POLR2A	chr19:55769490-55771413	GM19193	blood:	n/a	n/a
33	POLR2A	chr19:55768457-55771612	K562	blood:	n/a	n/a
34	TBL1XR1	chr19:55769523-55769720	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:55769495-55771128	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55767248..55770437-chr19:55917297..55920206,6	MCF-7	breast:
2	chr19:55769482..55772014-chr19:55910008..55913343,3	K562	blood:
3	chr19:55768392..55770990-chr19:55864103..55865699,2	MCF-7	breast:
4	chr19:55718690..55723182-chr19:55767265..55771415,7	MCF-7	breast:
5	chr19:55767441..55773483-chr19:55893952..55900251,14	MCF-7	breast:
6	chr19:55690523..55693470-chr19:55767618..55771014,3	K562	blood:
7	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
8	chr19:55768917..55770461-chr19:55972272..55974611,2	K562	blood:
9	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
10	chr19:55767441..55772178-chr19:55789060..55793175,7	MCF-7	breast:
11	chr19:55659384..55662186-chr19:55768928..55771825,2	K562	blood:
12	chr19:55768870..55771541-chr19:55794018..55795820,2	MCF-7	breast:
13	chr19:55727159..55729586-chr19:55769569..55772417,4	MCF-7	breast:
14	chr19:55769552..55771558-chr19:55896824..55899608,3	MCF-7	breast:
15	chr19:55657829..55659690-chr19:55769331..55772164,2	K562	blood:
16	chr19:55766592..55768703-chr19:55769065..55770634,3	K562	blood:
17	chr19:55767517..55772398-chr19:55789828..55793738,15	K562	blood:
18	chr19:55768444..55771983-chr19:55917721..55920953,5	K562	blood:
19	chr19:55724113..55730012-chr19:55766381..55773608,39	K562	blood:
20	chr19:55690189..55693086-chr19:55769247..55770801,2	MCF-7	breast:
21	chr19:55768912..55770529-chr19:55917802..55919631,2	MCF-7	breast:
22	chr19:55736575..55738793-chr19:55769011..55771822,2	MCF-7	breast:
23	chr19:55750475..55753226-chr19:55768525..55770423,2	MCF-7	breast:
24	chr19:55720878..55730679-chr19:55764402..55774570,47	K562	blood:
25	chr19:55756546..55759225-chr19:55768234..55771187,4	MCF-7	breast:
26	chr19:55769028..55772088-chr19:55788931..55793273,6	MCF-7	breast:
27	chr19:55768430..55771983-chr19:55917442..55920696,5	K562	blood:
28	chr19:55689704..55692023-chr19:55769514..55771598,2	K562	blood:
29	chr19:55732279..55738678-chr19:55765531..55770516,7	K562	blood:
30	chr19:55767479..55769662-chr19:55951902..55953549,2	MCF-7	breast:
31	chr19:55767450..55771021-chr19:55880319..55882334,3	MCF-7	breast:
32	chr19:55726024..55729916-chr19:55768850..55773519,13	MCF-7	breast:
33	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:

Variant related genes	Relation type
PPP6R1	TF binding region
ENSG00000269808	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000080031	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000095752	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000129990	Chromatin interaction

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

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

rs_ID	r²[population]
rs17851414	1.00[AMR][1000 genomes]
rs59551167	1.00[AMR][1000 genomes]
rs60578937	1.00[AMR][1000 genomes]
rs7252420	1.00[AMR][1000 genomes]
rs73605127	1.00[AMR][1000 genomes]
rs73605140	1.00[AMR][1000 genomes]
rs73605148	1.00[AMR][1000 genomes]
rs73605165	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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621343	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621359	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621364	1.00[AMR][1000 genomes]
rs73621369	1.00[AMR][1000 genomes]
rs73621370	1.00[AMR][1000 genomes]
rs9676742	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription 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	43 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55764800-55769800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:55764800-55770400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:55765200-55769800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr19:55765400-55769800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr19:55766000-55770600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:55766800-55769800	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr19:55768200-55771000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:55768400-55771400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr19:55768400-55771800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:55768600-55770800	Active TSS	HSMMtube	muscle
11	chr19:55768600-55771000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:55768600-55771200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:55768600-55771200	Active TSS	Ovary	ovary
14	chr19:55768800-55770800	Active TSS	Fetal Intestine Small	intestine
15	chr19:55768800-55771000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:55768800-55771000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr19:55768800-55771000	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr19:55768800-55771000	Active TSS	Fetal Intestine Large	intestine
19	chr19:55768800-55771000	Active TSS	Small Intestine	intestine
20	chr19:55768800-55771000	Active TSS	Thymus	Thymus
21	chr19:55768800-55771000	Active TSS	A549	lung
22	chr19:55768800-55771000	Active TSS	GM12878-XiMat	blood
23	chr19:55768800-55771000	Active TSS	K562	blood
24	chr19:55768800-55771000	Active TSS	NHLF	lung
25	chr19:55768800-55771200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:55768800-55771200	Active TSS	Esophagus	oesophagus
27	chr19:55768800-55771200	Active TSS	HSMM	muscle
28	chr19:55768800-55771200	Active TSS	NHDF-Ad	bronchial
29	chr19:55768800-55771400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:55768800-55771400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr19:55768800-55771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr19:55769000-55769800	Enhancers	Fetal Brain Male	brain
33	chr19:55769000-55770400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
34	chr19:55769000-55770400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:55769000-55770800	Active TSS	Fetal Thymus	thymus
36	chr19:55769000-55770800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr19:55769000-55771000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:55769000-55771200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:55769000-55771200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:55769000-55771200	Active TSS	Colon Smooth Muscle	Colon
41	chr19:55769000-55771200	Active TSS	Fetal Kidney	kidney
42	chr19:55769000-55771200	Active TSS	Rectal Smooth Muscle	rectum
43	chr19:55769000-55771200	Active TSS	HepG2	liver
44	chr19:55769000-55771400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr19:55769000-55771400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr19:55769000-55771600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr19:55769200-55769800	Active TSS	Stomach Mucosa	stomach
48	chr19:55769200-55770200	Active TSS	Right Atrium	heart
49	chr19:55769200-55770600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr19:55769200-55770800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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