Variant report

Variant	rs66868858
Chromosome Location	chr19:35771850-35771851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35770681-35772468	GM12892	blood:	n/a	n/a
2	PML	chr19:35771230-35772376	GM12878	blood:	n/a	n/a
3	CHD2	chr19:35771737-35771934	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr19:35769553-35772534	K562	blood:	n/a	n/a
5	POLR2A	chr19:35771698-35771873	K562	blood:	n/a	n/a
6	STAT5A	chr19:35771001-35772465	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:35770753-35772570	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr19:35771379-35771997	A549	lung:	n/a	n/a
9	POLR2A	chr19:35770903-35772628	GM12891	blood:	n/a	n/a
10	POLR2A	chr19:35771603-35771856	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr19:35770903-35772185	GM12891	blood:	n/a	n/a
12	POLR2A	chr19:35771429-35772388	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr19:35770904-35772275	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr19:35770315-35772079	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:35771193-35771880	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr19:35770381-35772592	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:35771055-35771896	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr19:35770782-35772559	GM12878	blood:	n/a	n/a
19	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
20	PBX3	chr19:35770729-35772616	A549	lung:	n/a	n/a
21	BCL3	chr19:35770882-35772280	A549	lung:	n/a	n/a
22	POLR2A	chr19:35770734-35772371	H1-hESC	embryonic stem cell:	n/a	n/a
23	ELF1	chr19:35771451-35771967	GM12878	blood:	n/a	chr19:35771740-35771752
24	POLR2A	chr19:35770723-35772481	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:35770867-35772321	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:35770775-35772509	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:35770928-35772473	H1-hESC	embryonic stem cell:	n/a	n/a
28	MTA3	chr19:35770868-35772664	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:35771785-35771919	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	NFATC1	chr19:35771190-35772344	GM12878	blood:	n/a	n/a
34	PBX3	chr19:35770953-35772129	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr19:35771264-35772114	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr19:35771622-35771901	ProgFib	skin:	n/a	n/a
37	POLR2A	chr19:35769455-35772473	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr19:35770670-35772512	K562	blood:	n/a	n/a
39	POLR2A	chr19:35770198-35772220	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr19:35770745-35772008	GM12891	blood:	n/a	n/a
41	POLR2A	chr19:35771751-35771982	A549	lung:	n/a	n/a
42	POLR2A	chr19:35770669-35772224	HL-60	blood:	n/a	n/a
43	POLR2A	chr19:35770718-35772146	Hela-S3	cervix:	n/a	n/a
44	BCL3	chr19:35770730-35772253	A549	lung:	n/a	n/a
45	POLR2A	chr19:35770816-35772140	GM19193	blood:	n/a	n/a
46	POLR2A	chr19:35771231-35772480	MCF10A-Er-Src	breast:	n/a	n/a
47	PBX3	chr19:35770840-35772509	A549	lung:	n/a	n/a
48	POLR2A	chr19:35770842-35772201	GM18505	blood:	n/a	n/a
49	POLR2A	chr19:35770389-35772343	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr19:35770866-35772151	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35771719..35773722-chr19:35808312..35810561,2	K562	blood:
2	chr19:35758290..35762202-chr19:35770035..35773582,5	K562	blood:
3	chr19:35769830..35774693-chr19:35781606..35784141,6	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM187B-4	chr19:35771523-35772436	NONHSAT065818

No data

Variant related genes	Relation type
HAMP	TF binding region
ENSG00000105695	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000012124	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10416533	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12459658	0.92[EUR][1000 genomes]
rs17173026	0.92[EUR][1000 genomes]
rs1882695	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2005927	0.92[EUR][1000 genomes]
rs2280746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4805116	0.90[EUR][1000 genomes]
rs4806114	0.91[EUR][1000 genomes]
rs4806115	0.91[EUR][1000 genomes]
rs4806121	0.90[EUR][1000 genomes]
rs4806125	0.90[EUR][1000 genomes]
rs55745204	0.92[EUR][1000 genomes]
rs55863037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56002756	0.92[EUR][1000 genomes]
rs56209605	0.88[ASN][1000 genomes]
rs73029949	0.90[EUR][1000 genomes]
rs73045852	0.92[EUR][1000 genomes]
rs73045860	0.92[EUR][1000 genomes]
rs7508022	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
11	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
12	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

No data

Chromatin state (count:102 , 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	chr19:35761400-35772000	Strong transcription	Fetal Stomach	stomach
3	chr19:35761400-35775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:35762400-35772000	Weak transcription	K562	blood
5	chr19:35762800-35772000	Weak transcription	Stomach Mucosa	stomach
6	chr19:35762800-35780000	Weak transcription	Hela-S3	cervix
7	chr19:35763600-35772800	Weak transcription	HSMMtube	muscle
8	chr19:35763600-35773400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:35765400-35772800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:35767800-35772800	Weak transcription	Osteobl	bone
11	chr19:35767800-35775800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:35768200-35772200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:35768200-35775600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:35768400-35773400	Weak transcription	Small Intestine	intestine
15	chr19:35768400-35781400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:35768800-35781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:35769000-35772600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr19:35769200-35775600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:35769800-35775600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:35770000-35772000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr19:35770000-35772800	Weak transcription	Primary T cells from cord blood	blood
22	chr19:35770000-35775600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:35770000-35775800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:35770200-35772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:35770200-35772200	Weak transcription	Dnd41	blood
26	chr19:35770200-35772600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr19:35770200-35773000	Enhancers	HepG2	liver
28	chr19:35770200-35773000	Weak transcription	HMEC	breast
29	chr19:35770200-35775400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:35770200-35775600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:35770400-35772000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:35770400-35772000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:35770400-35772000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:35770400-35772200	Weak transcription	Colonic Mucosa	Colon
35	chr19:35770400-35772400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:35770400-35776800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:35770600-35772000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:35770600-35772000	Enhancers	Brain Substantia Nigra	brain
39	chr19:35770600-35772000	Weak transcription	NHEK	skin
40	chr19:35770600-35772200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:35770600-35772200	Enhancers	Ovary	ovary
42	chr19:35770600-35772200	Weak transcription	A549	lung
43	chr19:35770600-35772400	Weak transcription	Aorta	Aorta
44	chr19:35770600-35772600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:35770600-35772800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:35770600-35772800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:35770600-35773000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:35770600-35773000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:35770600-35773000	Weak transcription	Left Ventricle	heart
50	chr19:35770600-35773200	Weak transcription	Gastric	stomach

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