Variant report

Variant	rs17104370
Chromosome Location	chr14:67955540-67955541
allele	A/C
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	SP1	chr14:67954863-67955741	GM12878	blood:	n/a	n/a
2	EP300	chr14:67954784-67955705	GM12878	blood:	n/a	chr14:67955440-67955454 chr14:67955026-67955040 chr14:67954850-67954866
3	CTCF	chr14:67955514-67955629	GM12891	blood:	n/a	n/a
4	POU2F2	chr14:67954723-67955766	GM12878	blood:	n/a	chr14:67955164-67955176 chr14:67955043-67955055
5	POLR2A	chr14:67955301-67955651	HepG2	liver:	n/a	n/a
6	WRNIP1	chr14:67954909-67956259	GM12878	blood:	n/a	n/a
7	MEF2A	chr14:67954752-67955715	GM12878	blood:	n/a	n/a
8	SPI1	chr14:67954704-67955775	GM12891	blood:	n/a	chr14:67955054-67955063 chr14:67955594-67955607
9	SPI1	chr14:67954726-67955720	GM12891	blood:	n/a	chr14:67955054-67955063 chr14:67955594-67955607
10	NFIC	chr14:67954525-67955920	GM12878	blood:	n/a	n/a
11	POU2F2	chr14:67954636-67955697	GM12891	blood:	n/a	chr14:67955164-67955176 chr14:67955043-67955055
12	UBTF	chr14:67955529-67955628	K562	blood:	n/a	n/a
13	SIN3A	chr14:67954837-67955618	GM12878	blood:	n/a	n/a
14	TAF1	chr14:67955208-67955626	GM12878	blood:	n/a	n/a
15	ATF2	chr14:67954759-67955830	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:67955083-67955642	GM12878	blood:	n/a	n/a
17	RELA	chr14:67954852-67955891	GM10847	blood:	n/a	n/a
18	RCOR1	chr14:67954722-67955849	GM12878	blood:	n/a	n/a
19	NFIC	chr14:67954716-67955790	GM12878	blood:	n/a	n/a
20	MYC	chr14:67954711-67956048	NB4	blood:	n/a	chr14:67955352-67955362
21	SRF	chr14:67955314-67955668	GM12878	blood:	n/a	n/a
22	TCF12	chr14:67954855-67955667	GM12878	blood:	n/a	n/a
23	RELA	chr14:67954841-67956001	GM19099	blood:	n/a	n/a
24	MTA3	chr14:67954676-67955937	GM12878	blood:	n/a	n/a
25	EP300	chr14:67954832-67955644	GM12878	blood:	n/a	chr14:67955440-67955454 chr14:67955026-67955040 chr14:67954850-67954866
26	PML	chr14:67954578-67955793	GM12878	blood:	n/a	n/a
27	FOXM1	chr14:67954707-67955767	GM12878	blood:	n/a	n/a
28	EBF1	chr14:67954609-67956010	GM12878	blood:	n/a	chr14:67955735-67955745 chr14:67955735-67955744 chr14:67955733-67955746
29	MEF2A	chr14:67954932-67955729	GM12878	blood:	n/a	n/a
30	CTCF	chr14:67955531-67955622	GM12878	blood:	n/a	n/a
31	RUNX3	chr14:67954664-67955946	GM12878	blood:	n/a	n/a
32	PAX5	chr14:67954825-67955674	GM12878	blood:	n/a	chr14:67955054-67955063 chr14:67955031-67955040 chr14:67955058-67955068
33	EBF1	chr14:67954716-67955877	GM12878	blood:	n/a	chr14:67955735-67955745 chr14:67955735-67955744 chr14:67955733-67955746
34	BATF	chr14:67954916-67955636	GM12878	blood:	n/a	n/a
35	PAX5	chr14:67954896-67955623	GM12878	blood:	n/a	chr14:67955054-67955063 chr14:67955031-67955040 chr14:67955058-67955068
36	IRF4	chr14:67954708-67955783	GM12878	blood:	n/a	chr14:67955443-67955457 chr14:67955439-67955460
37	ZEB1	chr14:67954813-67955699	GM12878	blood:	n/a	chr14:67955442-67955451 chr14:67955443-67955451
38	ETS1	chr14:67954930-67955747	GM12878	blood:	n/a	chr14:67955596-67955610 chr14:67955598-67955609 chr14:67955599-67955610
39	MAX	chr14:67954644-67956311	NB4	blood:	n/a	chr14:67955352-67955362
40	ATF2	chr14:67954819-67955693	GM12878	blood:	n/a	n/a
41	PAX5	chr14:67954702-67955793	GM12878	blood:	n/a	chr14:67955054-67955063 chr14:67955031-67955040 chr14:67955058-67955068
42	POLR2A	chr14:67954750-67955804	GM12892	blood:	n/a	n/a
43	PML	chr14:67955292-67955640	GM12878	blood:	n/a	n/a
44	CEBPB	chr14:67955284-67955597	GM12878	blood:	n/a	n/a
45	SPI1	chr14:67954780-67955704	GM12878	blood:	n/a	chr14:67955054-67955063 chr14:67955594-67955607
46	BCL11A	chr14:67954761-67955701	GM12878	blood:	n/a	chr14:67955031-67955040 chr14:67955054-67955063
47	PAX5	chr14:67954899-67955598	GM12878	blood:	n/a	chr14:67955054-67955063 chr14:67955031-67955040 chr14:67955058-67955068
48	CTCF	chr14:67955510-67955621	GM19239	blood:	n/a	n/a
49	TAF1	chr14:67955374-67955549	GM12878	blood:	n/a	n/a
50	YY1	chr14:67954792-67955625	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67954443..67956751-chr14:67999962..68001506,2	MCF-7	breast:
2	chr14:67954053..67956925-chr14:67980005..67982672,2	MCF-7	breast:

Variant related genes	Relation type
TMEM229B	TF binding region
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17104366	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	3 gene(s)	inside rSNPs	diseases
8	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67947000-67958200	Weak transcription	Pancreas	Pancrea
3	chr14:67947200-67958400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:67949800-67958200	Weak transcription	Fetal Brain Male	brain
5	chr14:67952400-67958600	Weak transcription	Fetal Brain Female	brain
6	chr14:67952800-67957600	Weak transcription	Fetal Stomach	stomach
7	chr14:67953800-67955800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr14:67953800-67958800	Weak transcription	Fetal Intestine Large	intestine
9	chr14:67954000-67956200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:67954200-67955800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr14:67954400-67955600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:67954400-67955800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr14:67954400-67955800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:67954400-67955800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:67954400-67955800	Flanking Active TSS	Fetal Thymus	thymus
16	chr14:67954400-67955800	Flanking Active TSS	Thymus	Thymus
17	chr14:67954600-67955600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr14:67954600-67955800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:67954600-67956000	Flanking Active TSS	Dnd41	blood
20	chr14:67954600-67956200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:67954800-67955600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:67954800-67955600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:67954800-67955600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:67954800-67955600	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr14:67954800-67955600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr14:67954800-67955600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr14:67954800-67955800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr14:67954800-67955800	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr14:67954800-67955800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr14:67954800-67955800	Flanking Active TSS	Right Ventricle	heart
31	chr14:67954800-67955800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr14:67954800-67956000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr14:67954800-67956000	Enhancers	Stomach Mucosa	stomach
34	chr14:67954800-67956000	Flanking Active TSS	GM12878-XiMat	blood
35	chr14:67954800-67959000	Weak transcription	Fetal Intestine Small	intestine
36	chr14:67955000-67955600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:67955000-67955600	Active TSS	Adipose Nuclei	Adipose
38	chr14:67955000-67955600	Active TSS	Brain Anterior Caudate	brain
39	chr14:67955000-67955600	Active TSS	Brain Cingulate Gyrus	brain
40	chr14:67955000-67955600	Active TSS	Brain Hippocampus Middle	brain
41	chr14:67955000-67955600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr14:67955000-67955600	Active TSS	Left Ventricle	heart
43	chr14:67955000-67955600	Active TSS	Spleen	Spleen
44	chr14:67955000-67955800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr14:67955000-67955800	Active TSS	Rectal Smooth Muscle	rectum
46	chr14:67955000-67955800	Active TSS	Right Atrium	heart
47	chr14:67955200-67955600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:67955200-67955600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr14:67955200-67955600	Active TSS	Colonic Mucosa	Colon
50	chr14:67955200-67955600	Active TSS	Colon Smooth Muscle	Colon

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