Variant report

Variant	rs179737
Chromosome Location	chr14:31493922-31493923
allele	A/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	FOS	chr14:31493843-31494627	MCF10A-Er-Src	breast:	n/a	chr14:31494445-31494454 chr14:31494446-31494455 chr14:31494444-31494455
2	SIN3A	chr14:31493880-31493996	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr14:31493798-31495202	HepG2	liver:	n/a	n/a
4	HCFC1	chr14:31493159-31496748	Hela-S3	cervix:	n/a	n/a
5	FOXA2	chr14:31493806-31494149	HepG2	liver:	n/a	chr14:31494074-31494086
6	MYBL2	chr14:31492781-31497072	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:31493848-31496566	PBDE	blood:	n/a	n/a
8	MYBL2	chr14:31493769-31496605	HepG2	liver:	n/a	n/a
9	JUND	chr14:31493869-31493948	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr14:31492623-31495181	HepG2	liver:	n/a	n/a
11	MBD4	chr14:31492852-31495377	HepG2	liver:	n/a	n/a
12	MBD4	chr14:31493001-31495123	HepG2	liver:	n/a	n/a
13	MXI1	chr14:31493290-31496538	IMR90	lung:	n/a	n/a
14	POLR2A	chr14:31493818-31496554	HepG2	liver:	n/a	n/a
15	FOXA1	chr14:31493703-31494260	HepG2	liver:	n/a	chr14:31494074-31494086
16	ZNF263	chr14:31493893-31496543	HEK293-T-REx	kidney:	n/a	chr14:31493902-31493911 chr14:31496331-31496340 chr14:31496281-31496302
17	POLR2A	chr14:31493870-31496263	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:31493679-31495230	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31480033..31485916-chr14:31491801..31497532,12	MCF-7	breast:
2	chr14:31493685..31496220-chr7:73243843..73246748,2	MCF-7	breast:
3	chr14:31482144..31489136-chr14:31492335..31498565,14	MCF-7	breast:
4	chr14:31345684..31347889-chr14:31491247..31494015,2	K562	blood:
5	chr14:31476012..31477905-chr14:31492310..31494262,2	MCF-7	breast:
6	chr14:31493616..31495498-chr14:31675892..31677511,2	K562	blood:
7	chr14:31343274..31345144-chr14:31492852..31495272,2	K562	blood:

Variant related genes	Relation type
AP4S1	TF binding region
ENSG00000189143	Chromatin interaction
ENSG00000100473	Chromatin interaction
ENSG00000207952	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000258968	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10135412	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10138011	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes]
rs10138452	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10140025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10140238	0.80[ASN][1000 genomes]
rs10145545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10147690	0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs10151219	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1033559	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10444696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483357	0.84[CHB][hapmap]
rs10872848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11621991	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12019004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12436401	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12590617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12884687	0.85[ASN][1000 genomes]
rs17448194	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs179698	0.92[ASN][1000 genomes]
rs179699	0.92[ASN][1000 genomes]
rs179701	0.92[ASN][1000 genomes]
rs179702	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs179704	0.92[ASN][1000 genomes]
rs179705	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs179706	0.94[ASN][1000 genomes]
rs179707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs179709	0.94[ASN][1000 genomes]
rs179710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs179711	0.86[ASN][1000 genomes]
rs179712	0.94[ASN][1000 genomes]
rs179714	0.96[ASN][1000 genomes]
rs179717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs179718	0.96[ASN][1000 genomes]
rs179720	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs179721	0.95[ASN][1000 genomes]
rs179722	0.94[ASN][1000 genomes]
rs179723	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs179725	0.99[ASN][1000 genomes]
rs179726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs179731	0.99[ASN][1000 genomes]
rs179733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs179734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs179736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs179743	0.92[ASN][1000 genomes]
rs179744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1884057	0.85[ASN][1000 genomes]
rs2024662	0.90[ASN][1000 genomes]
rs2144040	0.85[ASN][1000 genomes]
rs2179934	0.85[ASN][1000 genomes]
rs2273171	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2378813	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28535014	0.85[ASN][1000 genomes]
rs28648046	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784157	0.85[ASN][1000 genomes]
rs3898581	0.85[ASN][1000 genomes]
rs4340230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4981811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4981812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571369	0.84[CHB][hapmap]
rs6571380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs66463317	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67209135	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7143488	0.97[ASN][1000 genomes]
rs7149411	0.98[ASN][1000 genomes]
rs7150581	0.88[ASN][1000 genomes]
rs7150642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7154042	0.85[ASN][1000 genomes]
rs7155894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs72668364	0.84[AMR][1000 genomes]
rs72668370	0.85[AMR][1000 genomes]
rs7350754	0.85[ASN][1000 genomes]
rs766146	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8018402	0.82[ASN][1000 genomes]
rs9322865	0.96[CHB][hapmap];0.80[JPT][hapmap]
rs9322866	0.92[CEU][hapmap];0.95[CHB][hapmap]
rs9322869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised 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	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 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	chr14:31442400-31494400	Weak transcription	Gastric	stomach
2	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
4	chr14:31482600-31494400	Weak transcription	Lung	lung
5	chr14:31487800-31494000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:31487800-31494000	Weak transcription	Placenta	Placenta
7	chr14:31487800-31494400	Weak transcription	Esophagus	oesophagus
8	chr14:31487800-31494400	Weak transcription	Spleen	Spleen
9	chr14:31488000-31494000	Weak transcription	Ovary	ovary
10	chr14:31488000-31494400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:31488400-31494200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:31490200-31494000	Weak transcription	Left Ventricle	heart
13	chr14:31490200-31494400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:31490200-31494400	Weak transcription	Pancreas	Pancrea
15	chr14:31492000-31494000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:31492200-31494000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr14:31492400-31494000	Enhancers	Stomach Mucosa	stomach
18	chr14:31492400-31494600	Flanking Active TSS	Dnd41	blood
19	chr14:31492400-31497200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:31492400-31497400	Active TSS	K562	blood
21	chr14:31492600-31494000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr14:31492600-31496600	Active TSS	GM12878-XiMat	blood
23	chr14:31492600-31497000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:31492800-31494200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:31492800-31494600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:31492800-31494600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:31493000-31494000	Enhancers	Brain Substantia Nigra	brain
28	chr14:31493000-31494000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr14:31493000-31494200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:31493000-31494200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:31493000-31494200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr14:31493000-31494200	Flanking Active TSS	Fetal Brain Female	brain
33	chr14:31493000-31494400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr14:31493000-31494600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:31493000-31496600	Active TSS	Fetal Intestine Large	intestine
36	chr14:31493000-31496800	Active TSS	Fetal Intestine Small	intestine
37	chr14:31493000-31497000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr14:31493000-31497000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:31493000-31497000	Active TSS	Stomach Smooth Muscle	stomach
40	chr14:31493000-31497000	Active TSS	HSMMtube	muscle
41	chr14:31493000-31497200	Active TSS	NHLF	lung
42	chr14:31493200-31494000	Enhancers	Primary B cells from cord blood	blood
43	chr14:31493200-31494000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:31493200-31494000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr14:31493200-31494000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr14:31493200-31494000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:31493200-31494000	Flanking Active TSS	NH-A	brain
48	chr14:31493200-31494200	Enhancers	Primary B cells from peripheral blood	blood
49	chr14:31493200-31494200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr14:31493200-31494400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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