Variant report

Variant	rs17882475
Chromosome Location	chr19:36632307-36632308
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	ELF1	chr19:36631999-36632490	A549	lung:	n/a	n/a
2	MAX	chr19:36630293-36632395	Hela-S3	cervix:	n/a	chr19:36630977-36630987
3	SP1	chr19:36631980-36632669	A549	lung:	n/a	chr19:36632143-36632152 chr19:36632142-36632152 chr19:36632141-36632153 chr19:36632191-36632201 chr19:36632142-36632151 chr19:36632141-36632153 chr19:36632143-36632152 chr19:36632192-36632201 chr19:36632321-36632333 chr19:36632142-36632152 chr19:36632191-36632201
4	FOS	chr19:36632119-36632417	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr19:36630093-36632455	U87	brain:	n/a	n/a
6	POLR2A	chr19:36631965-36632580	HCT-116	colon:	n/a	n/a
7	POLR2A	chr19:36630208-36633376	K562	blood:	n/a	n/a
8	YY1	chr19:36631578-36632378	HepG2	liver:	n/a	n/a
9	MYC	chr19:36631584-36632422	K562	blood:	n/a	n/a
10	PBX3	chr19:36630079-36632738	A549	lung:	n/a	chr19:36632485-36632494
11	TBP	chr19:36630247-36632362	Hela-S3	cervix:	n/a	n/a
12	MAX	chr19:36631644-36632349	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr19:36630305-36632408	ECC-1	luminal epithelium:	n/a	n/a
14	FOSL2	chr19:36632043-36632983	A549	lung:	n/a	n/a
15	SP4	chr19:36631971-36632458	H1-hESC	embryonic stem cell:	n/a	chr19:36632188-36632204 chr19:36632139-36632155
16	TBP	chr19:36631700-36632658	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:36630263-36632392	K562	blood:	n/a	n/a
18	POLR2A	chr19:36630323-36632407	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:36630342-36632424	IMR90	lung:	n/a	n/a
20	ETS1	chr19:36632135-36632632	A549	lung:	n/a	n/a
21	POLR2A	chr19:36632074-36632419	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr19:36630251-36632725	K562	blood:	n/a	n/a
23	POLR2A	chr19:36631772-36632544	H1-hESC	embryonic stem cell:	n/a	n/a
24	BCL3	chr19:36632007-36632680	A549	lung:	n/a	n/a
25	SP1	chr19:36630080-36632576	A549	lung:	n/a	chr19:36630422-36630432 chr19:36630833-36630845 chr19:36632143-36632152 chr19:36631478-36631487 chr19:36632142-36632152 chr19:36632141-36632153 chr19:36632191-36632201 chr19:36632142-36632151 chr19:36632141-36632153 chr19:36630724-36630737 chr19:36630416-36630425 chr19:36630977-36630987 chr19:36630835-36630844 chr19:36630977-36630991 chr19:36632143-36632152 chr19:36632192-36632201 chr19:36630833-36630844 chr19:36630423-36630432 chr19:36630977-36630986 chr19:36630978-36630987 chr19:36630415-36630427 chr19:36632321-36632333 chr19:36632142-36632152 chr19:36630422-36630432 chr19:36630781-36630792 chr19:36630976-36630988 chr19:36630833-36630845 chr19:36630417-36630426 chr19:36632191-36632201 chr19:36630976-36630988
26	IRF1	chr19:36631813-36632485	K562	blood:	n/a	chr19:36632321-36632335 chr19:36632141-36632155
27	RCOR1	chr19:36632124-36632345	K562	blood:	n/a	n/a
28	TCF12	chr19:36632001-36632496	A549	lung:	n/a	chr19:36632465-36632472
29	POLR2A	chr19:36630273-36632419	A549	lung:	n/a	n/a
30	SP4	chr19:36632051-36632726	H1-hESC	embryonic stem cell:	n/a	chr19:36632188-36632204 chr19:36632139-36632155 chr19:36632681-36632697
31	POLR2A	chr19:36630303-36632484	HepG2	liver:	n/a	n/a
32	CHD2	chr19:36632082-36632385	Hela-S3	cervix:	n/a	n/a
33	SP1	chr19:36632047-36632375	H1-hESC	embryonic stem cell:	n/a	chr19:36632143-36632152 chr19:36632142-36632152 chr19:36632141-36632153 chr19:36632191-36632201 chr19:36632142-36632151 chr19:36632141-36632153 chr19:36632143-36632152 chr19:36632192-36632201 chr19:36632321-36632333 chr19:36632142-36632152 chr19:36632191-36632201
34	MAZ	chr19:36630156-36632398	IMR90	lung:	n/a	chr19:36630977-36630987
35	STAT5A	chr19:36632093-36632849	GM12878	blood:	n/a	n/a
36	MAX	chr19:36631514-36632582	ECC-1	luminal epithelium:	n/a	n/a
37	ZMIZ1	chr19:36632195-36632392	K562	blood:	n/a	n/a
38	POLR2A	chr19:36630168-36632497	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr19:36631978-36632404	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:36630361-36632359	GM18951	blood:	n/a	n/a
41	POLR2A	chr19:36630252-36632390	HUVEC	blood vessel:	n/a	n/a
42	SP1	chr19:36632072-36632345	GM12878	blood:	n/a	chr19:36632143-36632152 chr19:36632142-36632152 chr19:36632141-36632153 chr19:36632191-36632201 chr19:36632142-36632151 chr19:36632141-36632153 chr19:36632143-36632152 chr19:36632192-36632201 chr19:36632321-36632333 chr19:36632142-36632152 chr19:36632191-36632201
43	POLR2A	chr19:36630223-36632515	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr19:36630304-36632331	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr19:36630294-36632403	MCF-7	breast:	n/a	n/a
46	POLR2A	chr19:36630310-36632529	K562	blood:	n/a	n/a
47	RCOR1	chr19:36632174-36632374	GM12878	blood:	n/a	n/a
48	MAX	chr19:36632132-36632348	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:36632020-36632884	GM12878	blood:	n/a	n/a
50	MYC	chr19:36631689-36632314	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36630678..36632307-chr19:36642468..36644265,2	K562	blood:
2	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
3	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
4	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:
5	chr19:36630602..36632414-chr19:38875371..38878496,3	MCF-7	breast:
6	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
7	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
8	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
9	chr19:36604026..36607708-chr19:36630473..36633466,10	K562	blood:
10	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:
11	chr19:36391220..36392948-chr19:36631072..36632593,2	MCF-7	breast:
12	chr19:36544655..36547364-chr19:36630776..36632492,2	K562	blood:

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000105261	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000161281	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000105254	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17879464	0.91[AMR][1000 genomes]
rs17882184	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17886770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17887018	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv579424	chr19:36630803-36633645	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
12	esv3347517	chr19:36631112-36633160	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	28 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	chr19:36630200-36632400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:36630200-36632400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:36630200-36632400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:36630200-36632400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:36630200-36632400	Active TSS	Primary T cells from cord blood	blood
6	chr19:36630200-36632400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:36630200-36632400	Active TSS	Aorta	Aorta
8	chr19:36630200-36632400	Active TSS	Fetal Brain Female	brain
9	chr19:36630200-36632400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:36630200-36632600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:36630200-36632600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:36630200-36632600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:36630200-36632600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:36630200-36632600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:36630200-36632800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:36630200-36632800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr19:36630200-36632800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr19:36630200-36632800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:36630400-36632400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:36630400-36632400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:36630400-36632400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:36630400-36632400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:36630400-36632400	Active TSS	Esophagus	oesophagus
24	chr19:36630400-36632400	Active TSS	Fetal Kidney	kidney
25	chr19:36630400-36632400	Active TSS	Ovary	ovary
26	chr19:36630400-36632400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr19:36630400-36632400	Active TSS	HSMMtube	muscle
28	chr19:36630400-36632600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:36630400-36632800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:36630600-36632400	Active TSS	Rectal Smooth Muscle	rectum
31	chr19:36630600-36632400	Active TSS	Thymus	Thymus
32	chr19:36630600-36632400	Active TSS	GM12878-XiMat	blood
33	chr19:36630600-36632600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:36630800-36632400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:36630800-36632400	Active TSS	NHEK	skin
36	chr19:36630800-36632600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:36631200-36632800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
38	chr19:36631600-36632400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:36631800-36632600	Active TSS	Brain Germinal Matrix	brain
40	chr19:36632000-36632400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr19:36632000-36632600	Enhancers	Primary B cells from cord blood	blood
42	chr19:36632000-36633000	Enhancers	Primary B cells from peripheral blood	blood
43	chr19:36632000-36633000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:36632200-36632400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:36632200-36632400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr19:36632200-36632400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr19:36632200-36632400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr19:36632200-36632400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr19:36632200-36632400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr19:36632200-36632400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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