Variant report

Variant	rs226983
Chromosome Location	chr14:45554372-45554373
allele	G/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	chr14:45554347-45554377	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr14:45552931-45554407	Hela-S3	cervix:	n/a	chr14:45554155-45554166 chr14:45554155-45554170 chr14:45554160-45554169 chr14:45554160-45554170
3	RFX5	chr14:45552748-45554542	Hela-S3	cervix:	n/a	n/a
4	MYC	chr14:45553284-45555019	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr14:45553053-45554462	NB4	blood:	n/a	chr14:45553274-45553283 chr14:45553273-45553284 chr14:45553277-45553285
6	MXI1	chr14:45552908-45554535	SK-N-SH	brain:	n/a	chr14:45553275-45553284
7	POLR2A	chr14:45552830-45554527	PBDE	blood:	n/a	n/a
8	CTCF	chr14:45554109-45554391	K562	blood:	n/a	n/a
9	POLR2A	chr14:45552932-45554389	Hela-S3	cervix:	n/a	n/a
10	MAFF	chr14:45554086-45554423	HepG2	liver:	n/a	chr14:45554153-45554171
11	MXI1	chr14:45552259-45554589	IMR90	lung:	n/a	chr14:45553275-45553284
12	MAX	chr14:45552905-45554505	NB4	blood:	n/a	chr14:45553274-45553283 chr14:45553273-45553284 chr14:45553277-45553285
13	TBP	chr14:45554213-45554574	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:45552843-45554495	MCF10A-Er-Src	breast:	n/a	n/a
15	HEY1	chr14:45554226-45554462	HepG2	liver:	n/a	n/a
16	WRNIP1	chr14:45554256-45554483	GM12878	blood:	n/a	n/a
17	MXI1	chr14:45553009-45554668	Hela-S3	cervix:	n/a	chr14:45553275-45553284
18	POLR2A	chr14:45554193-45554451	Hela-S3	cervix:	n/a	n/a
19	MYC	chr14:45554152-45554691	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:45552931-45554378	Hela-S3	cervix:	n/a	n/a
21	TBP	chr14:45552853-45554563	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:45554236-45554583	ProgFib	skin:	n/a	n/a
23	ZNF263	chr14:45553269-45554516	HEK293-T-REx	kidney:	n/a	chr14:45553747-45553768 chr14:45554402-45554411
24	POLR2A	chr14:45552812-45555002	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr14:45552988-45554541	HepG2	liver:	n/a	n/a
26	FOS	chr14:45554112-45554553	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45552187..45554745-chr9:139890498..139892780,2	MCF-7	breast:
2	chr14:45553008..45555497-chr14:45563019..45565816,4	MCF-7	breast:
3	chr14:45552419..45555134-chr14:45577335..45584385,10	MCF-7	breast:
4	chr14:45430787..45433021-chr14:45551879..45555162,3	K562	blood:
5	chr14:45551908..45554831-chr14:45578936..45581671,3	MCF-7	breast:
6	chr14:45430704..45432872-chr14:45551768..45554827,3	K562	blood:
7	chr14:45431241..45433637-chr14:45553099..45554668,2	MCF-7	breast:
8	chr14:45552156..45555644-chr14:45564630..45569930,7	MCF-7	breast:
9	chr14:45552000..45555852-chr14:45600098..45605984,10	MCF-7	breast:
10	chr14:45553611..45556402-chr14:45602185..45603951,2	K562	blood:
11	chr14:45552300..45554795-chr14:45602332..45605115,2	K562	blood:
12	chr14:45554176..45556075-chr14:45596384..45598770,2	MCF-7	breast:
13	chr14:45553440..45555348-chr14:45576800..45578768,2	MCF-7	breast:
14	chr14:45510248..45513228-chr14:45553059..45554634,2	MCF-7	breast:
15	chr14:45429808..45433002-chr14:45552349..45555813,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249163	TF binding region
ENSG00000212615	TF binding region
ENSG00000198718	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000239043	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12437023	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs1252953	1.00[JPT][hapmap]
rs12894232	1.00[LWK][hapmap]
rs5020583	1.00[MEX][hapmap]
rs8022776	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	32 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	chr14:45552600-45554400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:45552600-45554400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr14:45552600-45554600	Active TSS	Colonic Mucosa	Colon
4	chr14:45552600-45554600	Active TSS	HepG2	liver
5	chr14:45552600-45554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:45552600-45554800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:45552600-45554800	Active TSS	Right Atrium	heart
8	chr14:45552600-45555000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:45552600-45555000	Active TSS	Stomach Smooth Muscle	stomach
10	chr14:45552600-45555200	Active TSS	Psoas Muscle	Psoas
11	chr14:45552600-45555400	Active TSS	NHLF	lung
12	chr14:45552600-45555800	Active TSS	K562	blood
13	chr14:45552600-45556000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:45552800-45554400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr14:45552800-45554400	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr14:45552800-45554400	Active TSS	Esophagus	oesophagus
17	chr14:45552800-45554400	Active TSS	Fetal Heart	heart
18	chr14:45552800-45554400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr14:45552800-45554400	Active TSS	Left Ventricle	heart
20	chr14:45552800-45554400	Active TSS	Pancreas	Pancrea
21	chr14:45552800-45554400	Active TSS	Stomach Mucosa	stomach
22	chr14:45552800-45554400	Active TSS	HSMMtube	muscle
23	chr14:45552800-45554600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr14:45552800-45554600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr14:45552800-45554600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:45552800-45554600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:45552800-45554600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:45552800-45554600	Active TSS	Placenta	Placenta
29	chr14:45552800-45554600	Active TSS	Right Ventricle	heart
30	chr14:45552800-45554600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr14:45552800-45554800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr14:45552800-45554800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:45552800-45554800	Active TSS	Fetal Intestine Large	intestine
34	chr14:45552800-45555000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:45552800-45555000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:45552800-45555000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:45552800-45555000	Active TSS	Fetal Intestine Small	intestine
38	chr14:45552800-45555000	Active TSS	Fetal Kidney	kidney
39	chr14:45552800-45555000	Active TSS	Fetal Muscle Trunk	muscle
40	chr14:45552800-45555000	Active TSS	NHDF-Ad	bronchial
41	chr14:45552800-45555200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:45552800-45555200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:45552800-45555200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:45552800-45555200	Active TSS	Ovary	ovary
45	chr14:45552800-45555800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:45552800-45557200	Active TSS	GM12878-XiMat	blood
47	chr14:45553000-45554400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:45553000-45554400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr14:45553000-45554400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:45553000-45554600	Active TSS	Fetal Muscle Leg	muscle

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