Variant report

Variant	rs4806654
Chromosome Location	chr19:55768276-55768277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr19:55768209-55771137	PANC-1	pancreas:	n/a	n/a
2	MYC	chr19:55768210-55769120	K562	blood:	n/a	chr19:55768523-55768532
3	MYBL2	chr19:55768029-55768424	HepG2	liver:	n/a	n/a
4	MAX	chr19:55767856-55769190	HepG2	liver:	n/a	chr19:55768523-55768532
5	E2F6	chr19:55768165-55769427	K562	blood:	n/a	chr19:55769298-55769310 chr19:55768957-55768968
6	BHLHE40	chr19:55768196-55769177	K562	blood:	n/a	n/a
7	MTA3	chr19:55767834-55768381	GM12878	blood:	n/a	n/a
8	MAX	chr19:55767908-55769051	HepG2	liver:	n/a	chr19:55768523-55768532
9	CEBPB	chr19:55767908-55768342	HepG2	liver:	n/a	chr19:55768070-55768081
10	MAX	chr19:55768150-55768361	K562	blood:	n/a	n/a
11	USF1	chr19:55768104-55768320	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:55768081-55768439	HepG2	liver:	n/a	n/a
13	FOXA1	chr19:55767882-55768339	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:55768135-55768284	K562	blood:	n/a	n/a
15	POLR2A	chr19:55768010-55768790	HepG2	liver:	n/a	n/a
16	POLR2A	chr19:55768098-55769444	HL-60	blood:	n/a	n/a
17	MAX	chr19:55768261-55769239	K562	blood:	n/a	chr19:55768523-55768532
18	MAX	chr19:55767994-55769837	K562	blood:	n/a	chr19:55769750-55769759 chr19:55768523-55768532
19	HEY1	chr19:55768117-55768413	HepG2	liver:	n/a	n/a
20	MYC	chr19:55768179-55769110	NB4	blood:	n/a	chr19:55768523-55768532
21	MYC	chr19:55768256-55769103	K562	blood:	n/a	chr19:55768523-55768532
22	MYC	chr19:55768147-55768295	HepG2	liver:	n/a	n/a
23	MBD4	chr19:55767915-55768466	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:55768171-55768368	HepG2	liver:	n/a	n/a
25	WRNIP1	chr19:55764368-55769616	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:55767880-55768604	HepG2	liver:	n/a	n/a
27	MAX	chr19:55768081-55769292	NB4	blood:	n/a	chr19:55768523-55768532
28	MYBL2	chr19:55767872-55768569	HepG2	liver:	n/a	n/a
29	CHD1	chr19:55766579-55768295	GM12878	blood:	n/a	n/a
30	HEY1	chr19:55767805-55768554	HepG2	liver:	n/a	n/a
31	MAX	chr19:55768193-55769195	GM12878	blood:	n/a	chr19:55768523-55768532
32	HNF4A	chr19:55767925-55768304	HepG2	liver:	n/a	n/a
33	MXI1	chr19:55768072-55769350	GM12878	blood:	n/a	n/a
34	TEAD4	chr19:55767924-55768302	HepG2	liver:	n/a	n/a
35	MAX	chr19:55767370-55769294	A549	lung:	n/a	chr19:55768523-55768532 chr19:55767583-55767592
36	ZNF384	chr19:55768232-55768869	K562	blood:	n/a	n/a
37	NFIC	chr19:55767969-55768352	HepG2	liver:	n/a	n/a
38	MXI1	chr19:55768036-55769183	HepG2	liver:	n/a	n/a
39	POLR2A	chr19:55768015-55768418	HepG2	liver:	n/a	n/a
40	POLR2A	chr19:55767975-55768462	HepG2	liver:	n/a	n/a
41	TBP	chr19:55768109-55768371	HepG2	liver:	n/a	n/a
42	MBD4	chr19:55767943-55768315	HepG2	liver:	n/a	n/a
43	MAX	chr19:55767791-55769173	HepG2	liver:	n/a	chr19:55768523-55768532
44	SP1	chr19:55767827-55768440	HepG2	liver:	n/a	n/a
45	USF1	chr19:55768092-55768343	HepG2	liver:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55767248..55770437-chr19:55917297..55920206,6	MCF-7	breast:
2	chr19:55766270..55768327-chr19:55917857..55920596,3	K562	blood:
3	chr19:55718690..55723182-chr19:55767265..55771415,7	MCF-7	breast:
4	chr19:55767441..55773483-chr19:55893952..55900251,14	MCF-7	breast:
5	chr19:55690523..55693470-chr19:55767618..55771014,3	K562	blood:
6	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
7	chr19:55596371..55599189-chr19:55766954..55768796,2	K562	blood:
8	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
9	chr19:55767441..55772178-chr19:55789060..55793175,7	MCF-7	breast:
10	chr19:55766592..55768703-chr19:55769065..55770634,3	K562	blood:
11	chr19:55726487..55728063-chr19:55766262..55769057,2	MCF-7	breast:
12	chr19:55766579..55768954-chr19:55914081..55916884,2	K562	blood:
13	chr19:55767517..55772398-chr19:55789828..55793738,15	K562	blood:
14	chr19:55724113..55730012-chr19:55766381..55773608,39	K562	blood:
15	chr19:55765021..55768327-chr19:55917514..55921278,5	K562	blood:
16	chr19:55720878..55730679-chr19:55764402..55774570,47	K562	blood:
17	chr19:55756546..55759225-chr19:55768234..55771187,4	MCF-7	breast:
18	chr19:55732279..55738678-chr19:55765531..55770516,7	K562	blood:
19	chr19:55767479..55769662-chr19:55951902..55953549,2	MCF-7	breast:
20	chr19:55767450..55771021-chr19:55880319..55882334,3	MCF-7	breast:
21	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:

No data

Variant related genes	Relation type
PPP6R1	TF binding region
ENSG00000095752	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000269808	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000080031	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4806471	1.00[MEX][hapmap]
rs66951554	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73053113	0.98[EUR][1000 genomes]
rs73053121	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73053136	0.84[AMR][1000 genomes];0.85[ASN][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	chr19:55758400-55769000	Weak transcription	Aorta	Aorta
2	chr19:55760400-55768600	Weak transcription	Ovary	ovary
3	chr19:55764200-55769200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr19:55764200-55769600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr19:55764200-55769600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr19:55764200-55769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:55764400-55768800	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr19:55764400-55769200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr19:55764400-55769400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr19:55764600-55768600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr19:55764600-55769400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr19:55764600-55769600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr19:55764600-55769600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr19:55764600-55769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:55764800-55768400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr19:55764800-55768400	Enhancers	Pancreas	Pancrea
17	chr19:55764800-55768600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr19:55764800-55769800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:55764800-55770400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:55765000-55768600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr19:55765000-55768600	Active TSS	Rectal Smooth Muscle	rectum
22	chr19:55765200-55768400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr19:55765200-55768400	Enhancers	Gastric	stomach
24	chr19:55765200-55768400	Enhancers	Psoas Muscle	Psoas
25	chr19:55765200-55769800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr19:55765400-55768600	Enhancers	Lung	lung
27	chr19:55765400-55769800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr19:55765600-55768400	Enhancers	Left Ventricle	heart
29	chr19:55765800-55768400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:55765800-55768800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr19:55765800-55769400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr19:55766000-55768600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:55766000-55768600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:55766000-55768600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:55766000-55768600	Enhancers	Spleen	Spleen
36	chr19:55766000-55770600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:55766200-55768400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:55766200-55768400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:55766200-55768800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr19:55766200-55768800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr19:55766400-55769000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr19:55766600-55768400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:55766600-55768400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr19:55766800-55768400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:55766800-55768400	Flanking Active TSS	GM12878-XiMat	blood
46	chr19:55766800-55768600	Enhancers	Fetal Heart	heart
47	chr19:55766800-55768600	Flanking Active TSS	HepG2	liver
48	chr19:55766800-55768800	Transcr. at gene 5' and 3'	K562	blood
49	chr19:55766800-55769200	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr19:55766800-55769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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