Variant report

Variant	rs73038529
Chromosome Location	chr19:44455262-44455263
allele	C/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	ELF1	chr19:44454895-44455818	HCT-116	colon:	n/a	chr19:44455330-44455343
2	POLR2A	chr19:44454992-44455645	HL-60	blood:	n/a	n/a
3	CTCF	chr19:44455200-44455350	AG10803	skin:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
4	CTCF	chr19:44455150-44455384	Gliobla	brain:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
5	YY1	chr19:44455026-44455524	GM12878	blood:	n/a	chr19:44455154-44455170
6	MXI1	chr19:44455028-44455757	GM12878	blood:	n/a	n/a
7	STAT3	chr19:44455051-44455470	MCF10A-Er-Src	breast:	n/a	chr19:44455356-44455376 chr19:44455359-44455373 chr19:44455362-44455370 chr19:44455294-44455302 chr19:44455356-44455376
8	POLR2A	chr19:44454991-44455586	GM12892	blood:	n/a	n/a
9	RAD21	chr19:44455006-44455455	ECC-1	luminal epithelium:	n/a	chr19:44455246-44455265
10	CTCF	chr19:44455146-44455383	Hela-S3	cervix:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
11	EBF1	chr19:44455062-44455935	GM12878	blood:	n/a	chr19:44455198-44455207 chr19:44455623-44455636
12	POLR2A	chr19:44455033-44455536	HCT-116	colon:	n/a	n/a
13	MYC	chr19:44455195-44455362	HUVEC	blood vessel:	n/a	n/a
14	GABPA	chr19:44455057-44455648	K562	blood:	n/a	n/a
15	CTCF	chr19:44455160-44455310	GM12873	blood:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
16	MAX	chr19:44455024-44455808	SK-N-SH	brain:	n/a	n/a
17	STAT3	chr19:44455078-44455479	MCF10A-Er-Src	breast:	n/a	chr19:44455356-44455376 chr19:44455359-44455373 chr19:44455362-44455370 chr19:44455294-44455302 chr19:44455356-44455376
18	RELA	chr19:44455069-44455588	GM10847	blood:	n/a	n/a
19	CTCF	chr19:44455200-44455350	HRPEpiC	eye:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
20	TAF1	chr19:44455063-44455525	H1-neurons	neurons:	n/a	n/a
21	FOS	chr19:44455142-44455435	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr19:44455200-44455350	HMEC	breast:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
23	EP300	chr19:44455024-44455507	K562	blood:	n/a	chr19:44455332-44455339
24	MAX	chr19:44454963-44455509	ECC-1	luminal epithelium:	n/a	n/a
25	HCFC1	chr19:44454847-44455986	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr19:44455180-44455330	GM12866	blood:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
27	CTCF	chr19:44455200-44455350	AG04450	lung:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
28	RCOR1	chr19:44455136-44455408	HepG2	liver:	n/a	n/a
29	PAX5	chr19:44455097-44455438	GM12878	blood:	n/a	chr19:44455331-44455340
30	CTCF	chr19:44455160-44455310	GM12868	blood:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
31	ZNF143	chr19:44455061-44455667	H1-hESC	embryonic stem cell:	n/a	chr19:44455368-44455377 chr19:44455287-44455302 chr19:44455359-44455377 chr19:44455354-44455373 chr19:44455355-44455370 chr19:44455286-44455305 chr19:44455366-44455375
32	CTCF	chr19:44455140-44455290	GM12878	blood:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
33	CTCF	chr19:44455200-44455350	HepG2	liver:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
34	CTCF	chr19:44455220-44455370	GM12864	blood:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
35	RAD21	chr19:44455104-44455428	A549	lung:	n/a	chr19:44455246-44455265
36	RAD21	chr19:44455017-44455479	Hela-S3	cervix:	n/a	chr19:44455246-44455265
37	CTCF	chr19:44455112-44455416	H1-hESC	embryonic stem cell:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
38	CEBPD	chr19:44455107-44455469	K562	blood:	n/a	n/a
39	KAP1	chr19:44454979-44455543	U2OS	brain:	n/a	n/a
40	USF1	chr19:44455080-44455542	SK-N-SH	brain:	n/a	n/a
41	ELF1	chr19:44455038-44455640	GM12878	blood:	n/a	chr19:44455330-44455343
42	ELF1	chr19:44454956-44455750	MCF-7	breast:	n/a	chr19:44455330-44455343
43	EP300	chr19:44454872-44455549	A549	lung:	n/a	chr19:44455332-44455339
44	MYC	chr19:44455080-44455372	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr19:44455160-44455310	GM12801	blood:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266
46	POLR2A	chr19:44455035-44455594	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr19:44455087-44455716	ProgFib	skin:	n/a	n/a
48	UBTF	chr19:44455155-44455594	K562	blood:	n/a	n/a
49	CEBPB	chr19:44454934-44455524	GM12878	blood:	n/a	n/a
50	CTCF	chr19:44455197-44455361	LNCaP	prostate:	n/a	chr19:44455243-44455264 chr19:44455254-44455263 chr19:44455248-44455266

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44439254..44441098-chr19:44452141..44456291,4	K562	blood:

Variant related genes	Relation type
ZNF221	TF binding region
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10164273	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10164282	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11666551	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11668687	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11669702	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11669713	0.81[EUR][1000 genomes]
rs11670342	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11671384	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11672243	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673170	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12185486	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2284242	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2284243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs366111	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55738725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61734609	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72480789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036792	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73038508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73038515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73038526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73038539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038560	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038602	0.89[EUR][1000 genomes]
rs73050193	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73050195	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73051806	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73051810	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73051815	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73051825	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73051828	0.89[EUR][1000 genomes];0.84[ASN][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44454400-44456000	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr19:44454800-44455400	Active TSS	Primary B cells from cord blood	blood
3	chr19:44454800-44455400	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr19:44454800-44455600	Active TSS	Primary hematopoietic stem cells	blood
5	chr19:44454800-44455600	Active TSS	Liver	Liver
6	chr19:44454800-44455600	Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:44454800-44455800	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr19:44454800-44456000	Active TSS	Colonic Mucosa	Colon
9	chr19:44454800-44456000	Active TSS	Duodenum Mucosa	Duodenum
10	chr19:44454800-44456000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr19:44454800-44456000	Active TSS	A549	lung
12	chr19:44454800-44456000	Active TSS	GM12878-XiMat	blood
13	chr19:44454800-44456000	Active TSS	K562	blood
14	chr19:44454800-44456000	Active TSS	NHEK	skin
15	chr19:44454800-44456200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44454800-44456200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:44454800-44456200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:44454800-44456200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:44454800-44456400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:44454800-44456400	Active TSS	Brain Anterior Caudate	brain
21	chr19:44454800-44456400	Active TSS	Brain Hippocampus Middle	brain
22	chr19:44454800-44456400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:44454800-44456400	Active TSS	HMEC	breast
24	chr19:44454800-44456600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr19:44454800-44456600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr19:44454800-44456600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr19:44454800-44456600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:44454800-44456600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr19:44454800-44456600	Active TSS	Rectal Smooth Muscle	rectum
30	chr19:44454800-44456600	Flanking Active TSS	Dnd41	blood
31	chr19:44454800-44456600	Active TSS	HUVEC	blood vessel
32	chr19:44454800-44456800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr19:44454800-44456800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:44454800-44456800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:44454800-44456800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:44454800-44457000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr19:44454800-44460000	ZNF genes & repeats	Fetal Brain Male	brain
38	chr19:44455000-44455400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:44455000-44455400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:44455000-44455400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr19:44455000-44455400	Active TSS	HepG2	liver
42	chr19:44455000-44455600	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr19:44455000-44455600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr19:44455000-44455600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:44455000-44455600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:44455000-44455600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr19:44455000-44455600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:44455000-44455600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:44455000-44455600	Active TSS	Fetal Thymus	thymus
50	chr19:44455000-44455800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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