Variant report

Variant	rs17097906
Chromosome Location	chr14:31927375-31927376
allele	C/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	FOXA1	chr14:31927347-31927872	T-47D	breast:	n/a	n/a
2	EP300	chr14:31927350-31927887	T-47D	breast:	n/a	n/a
3	MYBL2	chr14:31925789-31927904	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:31927299-31927966	HepG2	liver:	n/a	chr14:31927770-31927781
5	JUND	chr14:31927225-31927915	HepG2	liver:	n/a	chr14:31927535-31927544
6	CREB1	chr14:31927110-31927919	HepG2	liver:	n/a	n/a
7	FOXA1	chr14:31927229-31928016	HepG2	liver:	n/a	n/a
8	ESR1	chr14:31927353-31927854	T-47D	breast:	n/a	n/a
9	FOXA1	chr14:31925892-31928010	HepG2	liver:	n/a	chr14:31927001-31927013
10	GATA3	chr14:31927311-31927945	T-47D	breast:	n/a	chr14:31927933-31927943
11	FOXA1	chr14:31926387-31928034	HepG2	liver:	n/a	chr14:31927001-31927013
12	ESR1	chr14:31927335-31927803	T-47D	breast:	n/a	n/a
13	MYBL2	chr14:31925551-31928151	HepG2	liver:	n/a	n/a
14	GATA3	chr14:31927243-31928147	MCF-7	breast:	n/a	chr14:31927933-31927943
15	JUND	chr14:31927369-31927693	K562	blood:	n/a	chr14:31927535-31927544
16	EP300	chr14:31927305-31927900	HepG2	liver:	n/a	n/a
17	TEAD4	chr14:31925590-31928065	HepG2	liver:	n/a	n/a
18	MBD4	chr14:31925870-31928127	HepG2	liver:	n/a	n/a
19	MXI1	chr14:31927358-31927873	HepG2	liver:	n/a	n/a
20	MXI1	chr14:31925672-31927739	SK-N-SH	brain:	n/a	n/a
21	ARID3A	chr14:31925760-31927934	HepG2	liver:	n/a	n/a
22	RFX5	chr14:31927289-31927822	HepG2	liver:	n/a	n/a
23	FOXA1	chr14:31927246-31927982	T-47D	breast:	n/a	n/a
24	MAZ	chr14:31925886-31927433	IMR90	lung:	n/a	chr14:31926734-31926744 chr14:31926649-31926659
25	FOXA1	chr14:31927301-31927988	HepG2	liver:	n/a	n/a
26	ESR1	chr14:31927301-31927877	T-47D	breast:	n/a	n/a
27	MAFK	chr14:31927354-31927849	HepG2	liver:	n/a	n/a
28	RCOR1	chr14:31927258-31927891	HepG2	liver:	n/a	n/a
29	GATA3	chr14:31927211-31927955	T-47D	breast:	n/a	chr14:31927933-31927943
30	MAX	chr14:31925753-31927900	HepG2	liver:	n/a	chr14:31926734-31926744 chr14:31926649-31926659
31	JUN	chr14:31927152-31927910	HepG2	liver:	n/a	chr14:31927535-31927544 chr14:31927534-31927547
32	EP300	chr14:31927278-31928001	HepG2	liver:	n/a	n/a
33	FOXA2	chr14:31926831-31928327	HepG2	liver:	n/a	chr14:31927001-31927013
34	JUND	chr14:31927343-31928056	T-47D	breast:	n/a	chr14:31927535-31927544
35	FOXA2	chr14:31927191-31927967	HepG2	liver:	n/a	n/a
36	NFIC	chr14:31925745-31928018	HepG2	liver:	n/a	n/a
37	CEBPB	chr14:31927333-31927968	HepG2	liver:	n/a	chr14:31927770-31927781

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
2	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:

Variant related genes	Relation type
ENSG00000203546	TF binding region
DTD2	TF binding region
ENSG00000250365	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10138682	1.00[ASN][1000 genomes]
rs10782377	0.82[JPT][hapmap]
rs17097889	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17555805	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2378860	0.87[GIH][hapmap]
rs2378861	0.82[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs6571419	0.82[JPT][hapmap]
rs6571422	0.87[GIH][hapmap];0.82[JPT][hapmap]
rs7142126	0.87[GIH][hapmap];0.82[JPT][hapmap]
rs7143507	0.82[JPT][hapmap]
rs7150876	0.87[GIH][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer 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
4	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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
5	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv456198	chr14:31919728-31972289	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv564179	chr14:31919728-31972289	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31925200-31927400	Active TSS	K562	blood
2	chr14:31925200-31927600	Active TSS	Brain Germinal Matrix	brain
3	chr14:31925200-31927600	Active TSS	Stomach Smooth Muscle	stomach
4	chr14:31925200-31927800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:31925400-31927400	Active TSS	Brain Substantia Nigra	brain
6	chr14:31925400-31927400	Active TSS	Duodenum Mucosa	Duodenum
7	chr14:31925600-31927400	Active TSS	Fetal Intestine Large	intestine
8	chr14:31925600-31927400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:31925600-31927800	Active TSS	Fetal Brain Female	brain
10	chr14:31925800-31927400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:31925800-31927400	Active TSS	Colonic Mucosa	Colon
12	chr14:31925800-31927400	Active TSS	Colon Smooth Muscle	Colon
13	chr14:31925800-31927600	Active TSS	Fetal Lung	lung
14	chr14:31926200-31927400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:31926600-31927400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:31926600-31927400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:31926800-31927400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:31926800-31927400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:31926800-31927400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:31926800-31927400	Flanking Active TSS	Dnd41	blood
21	chr14:31926800-31927400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr14:31926800-31927600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr14:31926800-31927600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr14:31926800-31927800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:31926800-31927800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:31926800-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:31927000-31927400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:31927000-31927400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:31927000-31927400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:31927000-31927400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:31927000-31927400	Flanking Active TSS	GM12878-XiMat	blood
32	chr14:31927000-31927400	Flanking Active TSS	NH-A	brain
33	chr14:31927000-31927600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:31927000-31927600	Enhancers	Primary B cells from peripheral blood	blood
35	chr14:31927000-31927600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr14:31927000-31927600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr14:31927000-31927600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr14:31927000-31927600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:31927000-31927600	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr14:31927000-31927600	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr14:31927000-31927600	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr14:31927000-31927600	Weak transcription	Placenta	Placenta
43	chr14:31927000-31927600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr14:31927000-31927800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:31927000-31927800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:31927000-31927800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:31927000-31927800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr14:31927000-31927800	Flanking Active TSS	Liver	Liver
49	chr14:31927000-31927800	Flanking Active TSS	A549	lung
50	chr14:31927000-31927800	Enhancers	Hela-S3	cervix

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