Variant report

Variant	rs2905435
Chromosome Location	chr19:19495954-19495955
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	ELF1	chr19:19495891-19497147	GM12878	blood:	n/a	chr19:19496583-19496594 chr19:19496583-19496594 chr19:19496320-19496332 chr19:19496584-19496593 chr19:19496581-19496594
2	KAP1	chr19:19495922-19496933	U2OS	brain:	n/a	n/a
3	SP1	chr19:19495889-19496747	H1-hESC	embryonic stem cell:	n/a	chr19:19496283-19496292 chr19:19496282-19496293 chr19:19496319-19496331 chr19:19496283-19496292 chr19:19496321-19496330 chr19:19496320-19496329 chr19:19496398-19496412 chr19:19496283-19496293 chr19:19496283-19496293 chr19:19496300-19496311 chr19:19496282-19496294 chr19:19496397-19496409 chr19:19496532-19496553 chr19:19496319-19496330 chr19:19496319-19496331 chr19:19496282-19496294 chr19:19496284-19496293 chr19:19496283-19496297
4	SIN3AK20	chr19:19495788-19496941	MCF-7	breast:	n/a	n/a
5	ZBTB7A	chr19:19495787-19498134	K562	blood:	n/a	n/a
6	CREB1	chr19:19495903-19497210	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:19495913-19497077	ProgFib	skin:	n/a	n/a
8	POLR2A	chr19:19495691-19497162	HUVEC	blood vessel:	n/a	n/a
9	PBX3	chr19:19495883-19496939	SK-N-SH	brain:	n/a	chr19:19496546-19496566 chr19:19496542-19496551 chr19:19496384-19496393
10	GABPA	chr19:19495851-19497272	K562	blood:	n/a	chr19:19497011-19497018
11	E2F6	chr19:19495871-19496426	K562	blood:	n/a	chr19:19496299-19496311
12	SP4	chr19:19495902-19496785	H1-hESC	embryonic stem cell:	n/a	chr19:19496282-19496293 chr19:19496280-19496296 chr19:19496300-19496311 chr19:19496319-19496335 chr19:19496319-19496330
13	POLR2A	chr19:19495805-19497025	MCF10A-Er-Src	breast:	n/a	n/a
14	GTF2F1	chr19:19495904-19496767	K562	blood:	n/a	n/a
15	E2F6	chr19:19495883-19496409	A549	lung:	n/a	chr19:19496299-19496311
16	HDAC2	chr19:19495934-19496348	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:19495755-19496382	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr19:19495907-19496991	K562	blood:	n/a	n/a
19	SRF	chr19:19495910-19496846	MCF-7	breast:	n/a	chr19:19496284-19496294
20	POLR2A	chr19:19495742-19497163	HUVEC	blood vessel:	n/a	n/a
21	TBP	chr19:19495921-19497001	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:19495882-19496302	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr19:19495608-19497401	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr19:19495888-19497100	K562	blood:	n/a	n/a
25	RFX5	chr19:19495616-19498018	SK-N-SH	brain:	n/a	chr19:19496542-19496551 chr19:19496610-19496619 chr19:19496607-19496622 chr19:19496608-19496622
26	JUND	chr19:19495942-19497052	K562	blood:	n/a	n/a
27	MAX	chr19:19495834-19496858	SK-N-SH	brain:	n/a	chr19:19496114-19496123 chr19:19496328-19496337
28	POLR2A	chr19:19495899-19497073	K562	blood:	n/a	n/a
29	MAZ	chr19:19495935-19497184	GM12878	blood:	n/a	chr19:19496114-19496123 chr19:19496328-19496337
30	MAX	chr19:19495792-19496733	A549	lung:	n/a	chr19:19496114-19496123 chr19:19496328-19496337
31	POLR2A	chr19:19495817-19497158	MCF-7	breast:	n/a	n/a
32	POLR2A	chr19:19495892-19496337	GM12891	blood:	n/a	n/a
33	TEAD4	chr19:19495849-19496312	K562	blood:	n/a	n/a
34	POLR2A	chr19:19495849-19497224	K562	blood:	n/a	n/a
35	POLR2A	chr19:19495910-19497077	GM12891	blood:	n/a	n/a
36	CREB1	chr19:19495913-19497141	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:19495821-19497228	MCF-7	breast:	n/a	n/a
38	POLR2A	chr19:19495877-19496360	K562	blood:	n/a	n/a
39	MTA3	chr19:19495607-19496402	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:19495887-19497051	HUVEC	blood vessel:	n/a	n/a
41	TAF1	chr19:19495852-19497105	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr19:19495815-19497076	ECC-1	luminal epithelium:	n/a	chr19:19496114-19496123 chr19:19496328-19496337
43	POLR2A	chr19:19495927-19496343	A549	lung:	n/a	n/a
44	TCF12	chr19:19495773-19496323	A549	lung:	n/a	n/a
45	TCF12	chr19:19495733-19497109	ECC-1	luminal epithelium:	n/a	n/a
46	RAD21	chr19:19495900-19496813	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr19:19495867-19496366	GM12878	blood:	n/a	n/a
48	NFIC	chr19:19495859-19496624	ECC-1	luminal epithelium:	n/a	chr19:19496370-19496387
49	CREB1	chr19:19495904-19496875	A549	lung:	n/a	n/a
50	POLR2A	chr19:19495896-19496351	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19494550..19497983-chr19:19513188..19518336,8	MCF-7	breast:
2	chr19:18390819..18392505-chr19:19495105..19497896,2	K562	blood:
3	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
4	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
5	chr19:19494923..19497823-chr19:19573798..19576950,3	K562	blood:
6	chr19:19303809..19306527-chr19:19495529..19497596,2	K562	blood:
7	chr19:19491648..19493907-chr19:19494746..19496356,2	MCF-7	breast:
8	chr19:19296531..19298620-chr19:19494803..19496582,2	MCF-7	breast:
9	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:

Variant related genes	Relation type
GATAD2A	TF binding region
ENSG00000167491	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000267234	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1000237	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10402627	0.81[ASN][1000 genomes]
rs10405625	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10410664	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10414830	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10419912	0.81[AMR][1000 genomes]
rs1063966	0.81[ASN][1000 genomes]
rs12973258	0.84[ASN][1000 genomes]
rs12975119	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1469712	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1469713	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17288409	0.83[ASN][1000 genomes]
rs1808653	0.83[AMR][1000 genomes]
rs1858999	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074088	0.83[ASN][1000 genomes]
rs2099334	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2288852	0.81[AMR][1000 genomes]
rs2315279	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2315281	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2315283	0.82[ASN][1000 genomes]
rs2315610	0.81[AMR][1000 genomes]
rs2905430	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2905431	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2905432	0.82[EUR][1000 genomes]
rs2916069	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2916073	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2916074	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2916076	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2965175	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2965180	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2965182	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2965183	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2965185	0.81[AFR][1000 genomes]
rs2965188	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2965189	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34277109	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34538000	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35418933	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808198	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4808200	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4808202	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4808203	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4808955	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4808957	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4808959	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4808961	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4808964	0.81[AMR][1000 genomes]
rs60321073	0.83[ASN][1000 genomes]
rs6909	0.81[ASN][1000 genomes]
rs7256149	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs751856	0.81[AMR][1000 genomes]
rs9917108	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19489200-19496000	Weak transcription	Spleen	Spleen
2	chr19:19494800-19496000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:19495200-19496000	Enhancers	Fetal Heart	heart
4	chr19:19495200-19497200	Active TSS	Fetal Brain Female	brain
5	chr19:19495200-19497600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:19495400-19496000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:19495400-19496000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:19495400-19496000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:19495400-19496000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:19495400-19496000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr19:19495400-19496000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:19495400-19496000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:19495400-19496000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr19:19495400-19496000	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr19:19495400-19496000	Flanking Active TSS	Colonic Mucosa	Colon
16	chr19:19495400-19496000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr19:19495400-19496000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr19:19495400-19496000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:19495400-19496000	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr19:19495400-19496000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr19:19495400-19496000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr19:19495400-19496000	Flanking Active TSS	K562	blood
23	chr19:19495400-19496000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr19:19495400-19496000	Flanking Active TSS	NHEK	skin
25	chr19:19495400-19496000	Flanking Active TSS	Osteobl	bone
26	chr19:19495400-19496200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr19:19495400-19496200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:19495400-19496200	Flanking Active TSS	Dnd41	blood
29	chr19:19495400-19496200	Flanking Active TSS	HUVEC	blood vessel
30	chr19:19495400-19496800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:19495400-19497000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:19495400-19497800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:19495400-19498200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr19:19495400-19498400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr19:19495600-19496000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:19495600-19496000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:19495600-19496000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:19495600-19496000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:19495600-19496000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr19:19495600-19496000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr19:19495600-19496000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr19:19495600-19496000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr19:19495600-19496000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr19:19495600-19496000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr19:19495600-19496000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:19495600-19496000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr19:19495600-19496000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:19495600-19496000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr19:19495600-19496000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:19495600-19496000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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