Variant report

Variant	rs34805185
Chromosome Location	chr19:35770784-35770785
allele	C/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	POLR2A	chr19:35770772-35771289	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:35770681-35772468	GM12892	blood:	n/a	n/a
3	POLR2A	chr19:35770727-35771416	A549	lung:	n/a	n/a
4	POLR2A	chr19:35769553-35772534	K562	blood:	n/a	n/a
5	POLR2A	chr19:35770718-35771368	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:35770671-35771735	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:35770753-35772570	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr19:35770689-35771382	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:35770315-35772079	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:35770750-35771267	K562	blood:	n/a	n/a
11	POLR2A	chr19:35770381-35772592	GM12878	blood:	n/a	n/a
12	EP300	chr19:35770654-35771393	HepG2	liver:	n/a	chr19:35771377-35771390
13	POLR2A	chr19:35770747-35771206	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr19:35770782-35772559	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:35770656-35771042	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr19:35770546-35771882	HepG2	liver:	n/a	chr19:35771624-35771635 chr19:35771623-35771638 chr19:35771185-35771194 chr19:35771624-35771635 chr19:35771625-35771634 chr19:35771624-35771635
17	PBX3	chr19:35770729-35772616	A549	lung:	n/a	n/a
18	MYBL2	chr19:35770772-35771340	HepG2	liver:	n/a	n/a
19	SP1	chr19:35770709-35771317	HepG2	liver:	n/a	n/a
20	FOXA2	chr19:35770777-35771222	HepG2	liver:	n/a	n/a
21	ZBTB7A	chr19:35770763-35771180	HepG2	liver:	n/a	n/a
22	POLR2A	chr19:35770734-35772371	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:35770684-35771418	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:35770723-35772481	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:35770723-35771417	ECC-1	luminal epithelium:	n/a	n/a
26	HNF4A	chr19:35770756-35771324	HepG2	liver:	n/a	chr19:35771168-35771180 chr19:35771166-35771181 chr19:35771168-35771181 chr19:35771163-35771185 chr19:35771167-35771181 chr19:35771063-35771085 chr19:35771167-35771180 chr19:35771168-35771181 chr19:35771168-35771180 chr19:35770934-35770941
27	FOXA1	chr19:35770717-35771174	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:35770775-35772509	MCF-7	breast:	n/a	n/a
29	POLR2A	chr19:35770723-35771403	A549	lung:	n/a	n/a
30	POLR2A	chr19:35770717-35772620	K562	blood:	n/a	n/a
31	POLR2A	chr19:35770336-35772496	A549	lung:	n/a	n/a
32	POLR2A	chr19:35770395-35772353	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:35769455-35772473	Hela-S3	cervix:	n/a	n/a
34	MYC	chr19:35770736-35771299	HepG2	liver:	n/a	chr19:35771185-35771194
35	POLR2A	chr19:35770670-35772512	K562	blood:	n/a	n/a
36	POLR2A	chr19:35770198-35772220	SK-N-MC	brain:	n/a	n/a
37	RXRA	chr19:35770713-35771354	HepG2	liver:	n/a	chr19:35771163-35771179 chr19:35771168-35771181 chr19:35771168-35771182
38	POLR2A	chr19:35770745-35772008	GM12891	blood:	n/a	n/a
39	HEY1	chr19:35770755-35771347	HepG2	liver:	n/a	n/a
40	FOXA1	chr19:35770685-35771359	HepG2	liver:	n/a	n/a
41	POLR2A	chr19:35770669-35772224	HL-60	blood:	n/a	n/a
42	POLR2A	chr19:35770719-35771517	HL-60	blood:	n/a	n/a
43	POLR2A	chr19:35770718-35772146	Hela-S3	cervix:	n/a	n/a
44	HDAC2	chr19:35770746-35771352	HepG2	liver:	n/a	n/a
45	BCL3	chr19:35770730-35772253	A549	lung:	n/a	n/a
46	POLR2A	chr19:35770663-35771110	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr19:35770683-35771333	GM12891	blood:	n/a	n/a
48	FOSL2	chr19:35770754-35771387	HepG2	liver:	n/a	n/a
49	POLR2A	chr19:35770389-35772343	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr19:35770728-35771498	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35758290..35762202-chr19:35770035..35773582,5	K562	blood:
2	chr19:35769830..35774693-chr19:35781606..35784141,6	K562	blood:
3	chr19:35768943..35770953-chr19:35842158..35843798,2	K562	blood:

Variant related genes	Relation type
HAMP	TF binding region
ENSG00000105698	Chromatin interaction
ENSG00000126266	Chromatin interaction
ENSG00000105695	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11671613	0.89[ASN][1000 genomes]
rs12971321	0.89[ASN][1000 genomes]
rs1894232	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2519961	0.86[ASN][1000 genomes]
rs2853333	0.84[ASN][1000 genomes]
rs2853336	0.86[ASN][1000 genomes]
rs35478572	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7251432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
10	nsv911620	chr19:35752917-35771382	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
11	nsv911621	chr19:35752917-35772471	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
12	nsv911622	chr19:35752917-35773146	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
13	nsv911623	chr19:35752917-35775441	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
14	nsv911624	chr19:35759043-35771382	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35761200-35772200	Weak transcription	Psoas Muscle	Psoas
2	chr19:35761400-35770800	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:35761400-35770800	Strong transcription	Fetal Thymus	thymus
4	chr19:35761400-35771000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:35761400-35771000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:35761400-35771000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:35761400-35771000	Strong transcription	Brain Germinal Matrix	brain
8	chr19:35761400-35771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:35761400-35772000	Strong transcription	Fetal Stomach	stomach
10	chr19:35761400-35775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:35761600-35771000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:35761600-35771000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr19:35761600-35771000	Strong transcription	Fetal Intestine Large	intestine
14	chr19:35761600-35771000	Strong transcription	Thymus	Thymus
15	chr19:35761600-35771200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:35761600-35771400	Strong transcription	Fetal Intestine Small	intestine
17	chr19:35761600-35771400	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:35761800-35770800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr19:35761800-35771000	Strong transcription	Fetal Brain Female	brain
20	chr19:35762200-35771200	Strong transcription	Right Ventricle	heart
21	chr19:35762400-35772000	Weak transcription	K562	blood
22	chr19:35762800-35772000	Weak transcription	Stomach Mucosa	stomach
23	chr19:35762800-35780000	Weak transcription	Hela-S3	cervix
24	chr19:35763200-35770800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:35763200-35771800	Strong transcription	Fetal Muscle Leg	muscle
26	chr19:35763400-35771400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr19:35763400-35771400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:35763600-35771600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:35763600-35772800	Weak transcription	HSMMtube	muscle
30	chr19:35763600-35773400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:35764400-35770800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:35764400-35770800	Strong transcription	Adipose Nuclei	Adipose
33	chr19:35764400-35771400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:35764400-35771400	Weak transcription	NHDF-Ad	bronchial
35	chr19:35764800-35770800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:35764800-35770800	Strong transcription	Brain Anterior Caudate	brain
37	chr19:35764800-35771200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:35765000-35771000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:35765200-35770800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr19:35765200-35771200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:35765400-35772800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:35765800-35771400	Strong transcription	Placenta	Placenta
43	chr19:35766800-35771200	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr19:35766800-35771200	Strong transcription	NHLF	lung
45	chr19:35767200-35770800	Strong transcription	Lung	lung
46	chr19:35767200-35771000	Weak transcription	Primary B cells from cord blood	blood
47	chr19:35767200-35771000	Strong transcription	Esophagus	oesophagus
48	chr19:35767600-35771600	Weak transcription	Fetal Kidney	kidney
49	chr19:35767800-35772800	Weak transcription	Osteobl	bone
50	chr19:35767800-35775800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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