Variant report

Variant	rs14715
Chromosome Location	chr19:36395388-36395389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:36395359-36395429	K562	blood:	n/a	n/a
2	CTCF	chr19:36395320-36395470	GM12864	blood:	n/a	n/a
3	NFE2	chr19:36395351-36395390	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:36394119-36395997	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36395385-36395435	AG09309	skin:	n/a
2	chr19:36395385-36395435	HEK293	kidney:	embryo
3	chr19:36395385-36395435	HRPEpiC	eye:	n/a
4	chr19:36395385-36395435	NH-A	brain:	n/a
5	chr19:36395385-36395435	HepG2	liver:	n/a
6	chr19:36395385-36395435	HMEC	breast:	n/a
7	chr19:36395385-36395435	U87	brain:	n/a
8	chr19:36395385-36395435	HEEpiC	esophagus:	n/a
9	chr19:36395385-36395435	GM06990	blood:	n/a
10	chr19:36395385-36395435	RPTEC	kidney:	n/a
11	chr19:36395385-36395435	GM12891	blood:	n/a
12	chr19:36395385-36395435	SKMC	muscle:	n/a
13	chr19:36395385-36395435	K562	blood:	n/a
14	chr19:36395385-36395435	AG04450	lung:	fetal
15	chr19:36395385-36395435	GM12892	blood:	n/a
16	chr19:36395385-36395435	CMK	blood:	n/a
17	chr19:36395385-36395435	LNCaP	prostate:	n/a
18	chr19:36395385-36395435	H1-hESC	embryonic stem cell:	embryo
19	chr19:36395385-36395435	SK-N-SH	brain:	n/a
20	chr19:36395385-36395435	AG09319	gingival:	n/a
21	chr19:36395385-36395435	NB4	blood:	n/a
22	chr19:36395385-36395435	MCF-7	breast:	n/a
23	chr19:36395385-36395435	BJ	skin:	n/a
24	chr19:36395385-36395435	Jurkat	blood:	n/a
25	chr19:36395385-36395435	A549	lung:	n/a
26	chr19:36395385-36395435	GM19239	blood:	n/a
27	chr19:36395385-36395435	NT2-D1	testis:	n/a
28	chr19:36395385-36395435	HRCEpiC	kidney:	n/a
29	chr19:36395385-36395435	GM12878	blood:	n/a
30	chr19:36395385-36395435	HRE	kidney:	n/a
31	chr19:36395385-36395435	SK-N-MC	brain:	n/a
32	chr19:36395385-36395435	NHDF-neo	bronchial:	n/a
33	chr19:36395385-36395435	MCF10A-Er-Src	breast:	n/a
34	chr19:36395385-36395435	ProgFib	skin:	n/a
35	chr19:36395385-36395435	PANC-1	pancreas:	n/a
36	chr19:36395385-36395435	PFSK-1	brain:	n/a
37	chr19:36395385-36395435	AoSMC	blood vessel:	n/a
38	chr19:36395385-36395435	AG10803	skin:	n/a
39	chr19:36395385-36395435	HNPCEpiC	eye:	n/a
40	chr19:36395385-36395435	Hela-S3	cervix:	n/a
41	chr19:36395385-36395435	Hepatocyte	liver:	n/a
42	chr19:36395385-36395435	HL-60	blood:	n/a
43	chr19:36395385-36395435	HCM	heart:	n/a
44	chr19:36395385-36395435	HAEpiC	amniotic membrane:	n/a
45	chr19:36395385-36395435	ovcar-3	ovarian:	n/a
46	chr19:36395385-36395435	ECC-1	luminal epithelium:	n/a
47	chr19:36395385-36395435	AG04449	skin:	fetal
48	chr19:36395385-36395435	T-47D	breast:	n/a
49	chr19:36395385-36395435	HUVEC	blood vessel:	n/a
50	chr19:36395385-36395435	HIPEpiC	eye:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36387478..36389349-chr19:36394132..36396571,2	MCF-7	breast:
2	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:
3	chr19:36205479..36207948-chr19:36393989..36396293,2	K562	blood:
4	chr19:36393311..36395845-chr19:36427548..36429396,2	MCF-7	breast:
5	chr19:36394774..36396289-chr19:36397745..36399812,2	MCF-7	breast:
6	chr19:36390133..36392611-chr19:36392789..36396319,5	MCF-7	breast:

No data

Variant related genes	Relation type
NFKBID	TF binding region
NFKBID	CpG island
ENSG00000167604	Chromatin interaction
ENSG00000011600	Chromatin interaction
ENSG00000126243	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11878548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11879200	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11879510	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880279	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11880605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11881380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11881594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882484	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882681	0.92[AFR][1000 genomes];1.00[AMR][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	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	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36390800-36395400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:36391600-36397400	Weak transcription	Stomach Mucosa	stomach
3	chr19:36391800-36396000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr19:36391800-36396000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:36391800-36396400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr19:36392000-36398000	Weak transcription	Brain Angular Gyrus	brain
7	chr19:36392200-36397400	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:36392200-36398600	Weak transcription	Right Atrium	heart
9	chr19:36393600-36397400	Weak transcription	Hela-S3	cervix
10	chr19:36394000-36398000	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:36394400-36395800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:36394400-36398400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:36394600-36396200	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:36394600-36397200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:36394600-36397800	Weak transcription	Liver	Liver
16	chr19:36394600-36398000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:36394800-36395600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:36394800-36396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:36394800-36396000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr19:36394800-36396000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:36394800-36396000	Weak transcription	NHLF	lung
22	chr19:36394800-36396000	Weak transcription	Osteobl	bone
23	chr19:36394800-36396400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:36394800-36396400	Enhancers	K562	blood
25	chr19:36394800-36397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:36394800-36397400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:36394800-36397400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr19:36394800-36397800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr19:36394800-36397800	Weak transcription	Right Ventricle	heart
30	chr19:36394800-36398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:36394800-36398200	Weak transcription	Colonic Mucosa	Colon
32	chr19:36394800-36398400	Weak transcription	Pancreas	Pancrea
33	chr19:36394800-36404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr19:36395000-36395600	Enhancers	Primary hematopoietic stem cells	blood
35	chr19:36395000-36395600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:36395000-36395800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:36395000-36395800	Genic enhancers	Thymus	Thymus
38	chr19:36395000-36396000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr19:36395000-36396000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:36395000-36396000	Weak transcription	Adipose Nuclei	Adipose
41	chr19:36395000-36396000	Weak transcription	A549	lung
42	chr19:36395000-36396200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:36395000-36396400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr19:36395000-36396400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:36395000-36396400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:36395000-36396400	Enhancers	Fetal Thymus	thymus
47	chr19:36395000-36397200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:36395000-36398000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:36395000-36398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:36395000-36398000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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