Variant report

Variant	rs17074157
Chromosome Location	chr13:50941054-50941055
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	EP300	chr13:50940930-50941312	GM12878	blood:	n/a	n/a
2	BCLAF1	chr13:50940816-50941356	GM12878	blood:	n/a	n/a
3	EP300	chr13:50941007-50941263	GM12878	blood:	n/a	n/a
4	PAX5	chr13:50940826-50941354	GM12878	blood:	n/a	n/a
5	PAX5	chr13:50940996-50941239	GM12878	blood:	n/a	n/a
6	RELA	chr13:50940880-50941329	GM19099	blood:	n/a	n/a
7	EP300	chr13:50940913-50941269	GM12878	blood:	n/a	n/a
8	BCL11A	chr13:50940908-50941253	GM12878	blood:	n/a	n/a
9	MEF2C	chr13:50940833-50941325	GM12878	blood:	n/a	n/a
10	MEF2A	chr13:50940872-50941393	GM12878	blood:	n/a	n/a
11	FOXM1	chr13:50940735-50941407	GM12878	blood:	n/a	n/a
12	POU2F2	chr13:50940849-50941380	GM12891	blood:	n/a	chr13:50940894-50940909
13	SP1	chr13:50940917-50941261	GM12878	blood:	n/a	n/a
14	BCL11A	chr13:50940828-50941368	GM12878	blood:	n/a	n/a
15	MTA3	chr13:50940690-50941460	GM12878	blood:	n/a	n/a
16	NFIC	chr13:50940529-50941087	SK-N-SH	brain:	n/a	chr13:50940793-50940821 chr13:50940804-50940821
17	TCF3	chr13:50940986-50941228	GM12878	blood:	n/a	n/a
18	POU2F2	chr13:50940864-50941403	GM12878	blood:	n/a	chr13:50940894-50940909
19	EBF1	chr13:50940735-50941302	GM12878	blood:	n/a	n/a
20	EP300	chr13:50940884-50941347	GM12878	blood:	n/a	n/a
21	NFATC1	chr13:50940809-50941347	GM12878	blood:	n/a	n/a
22	FOXM1	chr13:50940744-50941423	GM12878	blood:	n/a	n/a
23	PML	chr13:50940772-50941435	GM12878	blood:	n/a	n/a
24	REST	chr13:50941054-50941279	GM12878	blood:	n/a	chr13:50941170-50941190 chr13:50941170-50941190
25	POU2F2	chr13:50940915-50941306	GM12891	blood:	n/a	n/a
26	STAT5A	chr13:50940706-50941383	GM12878	blood:	n/a	n/a
27	BCLAF1	chr13:50940869-50941400	GM12878	blood:	n/a	n/a
28	MTA3	chr13:50940857-50941396	GM12878	blood:	n/a	n/a
29	WRNIP1	chr13:50941047-50941516	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr13:50940915-50941367	GM12878	blood:	n/a	n/a
31	POU2F2	chr13:50940912-50941304	GM12878	blood:	n/a	n/a
32	RUNX3	chr13:50940758-50941459	GM12878	blood:	n/a	n/a
33	STAT5A	chr13:50940857-50941365	GM12878	blood:	n/a	n/a
34	CREB1	chr13:50940875-50941436	GM12878	blood:	n/a	n/a
35	BATF	chr13:50940794-50941394	GM12878	blood:	n/a	n/a
36	NFIC	chr13:50940729-50941401	GM12878	blood:	n/a	chr13:50940793-50940821 chr13:50940804-50940821
37	GATA2	chr13:50940445-50941205	SH-SY5Y	brain:	n/a	n/a
38	SRF	chr13:50940990-50941186	GM12878	blood:	n/a	n/a
39	EBF1	chr13:50940960-50941258	GM12878	blood:	n/a	n/a
40	BATF	chr13:50940895-50941351	GM12878	blood:	n/a	n/a
41	YY1	chr13:50940953-50941242	GM12878	blood:	n/a	n/a
42	RUNX3	chr13:50940695-50941458	GM12878	blood:	n/a	n/a
43	REST	chr13:50940846-50941403	GM12878	blood:	n/a	chr13:50941170-50941190 chr13:50941170-50941190
44	CEBPB	chr13:50940788-50941464	GM12878	blood:	n/a	n/a
45	TCF12	chr13:50940948-50941243	GM12878	blood:	n/a	n/a
46	TCF3	chr13:50940910-50941328	GM12878	blood:	n/a	n/a
47	ATF2	chr13:50940698-50941406	GM12878	blood:	n/a	n/a
48	POU2F2	chr13:50940988-50941186	GM12878	blood:	n/a	n/a
49	CREB1	chr13:50940832-50941464	GM12878	blood:	n/a	n/a
50	REST	chr13:50941010-50941277	GM12878	blood:	n/a	chr13:50941170-50941190 chr13:50941170-50941190

No.	Distal block	Cell Line	Cell type
1	chr13:50931295..50934143-chr13:50939870..50941977,3	MCF-7	breast:
2	chr13:50698177..50699740-chr13:50938730..50941309,2	MCF-7	breast:
3	chr13:50929441..50932225-chr13:50939480..50941358,2	MCF-7	breast:
4	chr13:50940863..50942413-chr13:51484614..51486160,2	K562	blood:
5	chr13:50939370..50941845-chr13:50950043..50952232,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221198	TF binding region
ENSG00000233672	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17074185	1.00[EUR][1000 genomes]
rs17074368	1.00[AMR][1000 genomes]
rs17074444	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50933400-50944600	Weak transcription	Fetal Lung	lung
2	chr13:50933800-50944000	Weak transcription	Primary B cells from cord blood	blood
3	chr13:50934600-50942000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:50939200-50941400	Enhancers	Stomach Mucosa	stomach
5	chr13:50939400-50941200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr13:50939400-50941400	Enhancers	Primary B cells from peripheral blood	blood
7	chr13:50939400-50942000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:50939600-50941200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr13:50939800-50953400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:50940200-50952600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr13:50940400-50941200	Enhancers	Fetal Intestine Small	intestine
12	chr13:50940400-50942000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr13:50940600-50941400	Enhancers	Liver	Liver
14	chr13:50940600-50941400	Enhancers	Duodenum Mucosa	Duodenum
15	chr13:50940600-50941400	Enhancers	Fetal Kidney	kidney
16	chr13:50940600-50941600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr13:50940600-50942000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:50940600-50942400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr13:50940800-50941200	Enhancers	Small Intestine	intestine
20	chr13:50940800-50941400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr13:50940800-50941400	Enhancers	Fetal Heart	heart
22	chr13:50940800-50941400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr13:50940800-50941400	Enhancers	A549	lung
24	chr13:50940800-50941400	Enhancers	HUVEC	blood vessel
25	chr13:50940800-50941600	Enhancers	GM12878-XiMat	blood
26	chr13:50940800-50942000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr13:50940800-50942000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr13:50940800-50942600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:50941000-50941400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:50941000-50941400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr13:50941000-50941400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr13:50941000-50941600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:50941000-50941800	Enhancers	Gastric	stomach
34	chr13:50941000-50951200	Weak transcription	HepG2	liver

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