Variant report

Variant	rs3213247
Chromosome Location	chr19:44078736-44078737
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:44078619-44080254	IMR90	lung:	n/a	chr19:44079678-44079688 chr19:44079682-44079692
2	POLR2A	chr19:44078609-44079355	U87	brain:	n/a	n/a
3	POLR2A	chr19:44078636-44079309	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr19:44078583-44079057	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr19:44078727-44078900	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr19:44078669-44079959	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr19:44078540-44080103	U87	brain:	n/a	n/a
8	FOS	chr19:44078674-44078899	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr19:44078626-44080126	H1-hESC	embryonic stem cell:	n/a	n/a
10	MTA3	chr19:44078736-44079893	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:44078540-44080077	U87	brain:	n/a	n/a
12	MXI1	chr19:44078661-44080620	IMR90	lung:	n/a	n/a
13	POLR2A	chr19:44078731-44078916	Gliobla	brain:	n/a	n/a
14	POLR2A	chr19:44078531-44079036	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr19:44078592-44079368	U87	brain:	n/a	n/a
16	FOS	chr19:44078622-44078917	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44078455..44080853-chr19:44098810..44102178,4	MCF-7	breast:
2	chr19:44036185..44038265-chr19:44078295..44081409,3	K562	blood:
3	chr19:44077678..44083171-chr19:44093489..44103015,14	K562	blood:
4	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
5	chr19:44078643..44081382-chr19:44098876..44100782,4	K562	blood:
6	chr19:44078138..44080459-chr19:44123311..44124978,2	MCF-7	breast:
7	chr19:44077687..44082496-chr19:44098234..44103069,7	MCF-7	breast:
8	chr19:44077515..44081647-chr19:44122454..44125105,4	K562	blood:
9	chr19:44035923..44038107-chr19:44078243..44080720,2	MCF-7	breast:
10	chr19:44078733..44081444-chr19:44094635..44097229,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269583	TF binding region
PINLYP	TF binding region
ENSG00000176472	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000268361	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000105767	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2682587	1.00[JPT][hapmap]
rs73041580	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1063149	chr19:44059081-44087583	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr19:44048400-44078800	Weak transcription	Small Intestine	intestine
2	chr19:44057800-44078800	Weak transcription	HSMMtube	muscle
3	chr19:44058600-44078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr19:44059200-44078800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:44059800-44078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:44065400-44078800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:44065400-44078800	Weak transcription	Aorta	Aorta
8	chr19:44066200-44078800	Weak transcription	Pancreas	Pancrea
9	chr19:44066600-44078800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:44067400-44078800	Weak transcription	Fetal Heart	heart
11	chr19:44067400-44078800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:44067400-44078800	Weak transcription	Right Ventricle	heart
13	chr19:44067600-44078800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:44068000-44078800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:44068000-44078800	Weak transcription	Lung	lung
16	chr19:44068200-44078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:44068200-44078800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:44068200-44078800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr19:44068600-44078800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr19:44068600-44078800	Weak transcription	Fetal Intestine Large	intestine
21	chr19:44074400-44078800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:44074600-44078800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:44075200-44078800	Weak transcription	HMEC	breast
24	chr19:44076400-44078800	Weak transcription	NHLF	lung
25	chr19:44076400-44079000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:44076600-44078800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:44076800-44078800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:44077200-44078800	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr19:44077200-44078800	Weak transcription	Colonic Mucosa	Colon
30	chr19:44077400-44078800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:44077600-44078800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:44077600-44078800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:44077600-44079000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:44077800-44078800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:44078200-44078800	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr19:44078400-44078800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:44078400-44078800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr19:44078400-44078800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:44078400-44078800	Genic enhancers	Fetal Muscle Leg	muscle
40	chr19:44078400-44079000	Enhancers	Primary B cells from peripheral blood	blood
41	chr19:44078400-44079000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:44078400-44079200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:44078600-44078800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr19:44078600-44078800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:44078600-44078800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:44078600-44078800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr19:44078600-44078800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:44078600-44078800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:44078600-44078800	Enhancers	Primary T cells from cord blood	blood
50	chr19:44078600-44078800	Enhancers	Primary hematopoietic stem cells	blood

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