Variant report

Variant	rs571956167
Chromosome Location	chr19:36632056-36632057
allele	G/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	POLR2A	chr19:36630093-36632455	U87	brain:	n/a	n/a
5	POLR2A	chr19:36632049-36632306	HepG2	liver:	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	NRF1	chr19:36632052-36632259	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr19:36630342-36632424	IMR90	lung:	n/a	n/a
21	YY1	chr19:36630456-36632291	GM12892	blood:	n/a	chr19:36630473-36630492 chr19:36630976-36630990
22	POLR2A	chr19:36630251-36632725	K562	blood:	n/a	n/a
23	TAF1	chr19:36631939-36632232	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:36631772-36632544	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chr19:36631689-36632125	K562	blood:	n/a	n/a
26	BCL3	chr19:36632007-36632680	A549	lung:	n/a	n/a
27	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
28	IRF1	chr19:36631813-36632485	K562	blood:	n/a	chr19:36632321-36632335 chr19:36632141-36632155
29	TCF12	chr19:36632001-36632496	A549	lung:	n/a	chr19:36632465-36632472
30	NRF1	chr19:36632048-36632253	K562	blood:	n/a	n/a
31	POLR2A	chr19:36630273-36632419	A549	lung:	n/a	n/a
32	MYC	chr19:36631984-36632184	MCF-7	breast:	n/a	n/a
33	SP4	chr19:36632051-36632726	H1-hESC	embryonic stem cell:	n/a	chr19:36632188-36632204 chr19:36632139-36632155 chr19:36632681-36632697
34	POLR2A	chr19:36630303-36632484	HepG2	liver:	n/a	n/a
35	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
36	MAZ	chr19:36630156-36632398	IMR90	lung:	n/a	chr19:36630977-36630987
37	MAX	chr19:36631514-36632582	ECC-1	luminal epithelium:	n/a	n/a
38	GABPA	chr19:36631587-36632058	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr19:36631988-36632191	Gliobla	brain:	n/a	n/a
40	POLR2A	chr19:36630168-36632497	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr19:36631978-36632404	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr19:36630361-36632359	GM18951	blood:	n/a	n/a
43	POLR2A	chr19:36630252-36632390	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr19:36630223-36632515	Hela-S3	cervix:	n/a	n/a
45	MYC	chr19:36632056-36632281	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr19:36630304-36632331	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr19:36630294-36632403	MCF-7	breast:	n/a	n/a
48	POLR2A	chr19:36630310-36632529	K562	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	chr19:36630278..36632151-chr19:36704046..36706551,3	MCF-7	breast:
6	chr19:36630602..36632414-chr19:38875371..38878496,3	MCF-7	breast:
7	chr19:36630466..36632159-chr19:36704253..36707369,3	K562	blood:
8	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
9	chr1:228400809..228401396-chr19:36631414..36632120,2	Hela-S3	cervix:
10	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
11	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
12	chr17:40828184..40828848-chr19:36631342..36632165,2	Hela-S3	cervix:
13	chr19:36604026..36607708-chr19:36630473..36633466,10	K562	blood:
14	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:
15	chr19:36630738..36632299-chr19:36705733..36707758,2	MCF-7	breast:
16	chr19:36391220..36392948-chr19:36631072..36632593,2	MCF-7	breast:
17	chr19:36544655..36547364-chr19:36630776..36632492,2	K562	blood:

Variant related genes	Relation type
CAPNS1	TF binding region
ENSG00000196357	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000161281	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000161277	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000162913	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000068137	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	chr19:36630000-36632200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:36630000-36632200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr19:36630200-36632200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:36630200-36632200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:36630200-36632200	Active TSS	Brain Anterior Caudate	brain
6	chr19:36630200-36632200	Active TSS	Brain Cingulate Gyrus	brain
7	chr19:36630200-36632200	Active TSS	Brain Hippocampus Middle	brain
8	chr19:36630200-36632200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:36630200-36632200	Active TSS	Colonic Mucosa	Colon
10	chr19:36630200-36632200	Active TSS	Colon Smooth Muscle	Colon
11	chr19:36630200-36632200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr19:36630200-36632200	Active TSS	Fetal Lung	lung
13	chr19:36630200-36632200	Active TSS	Left Ventricle	heart
14	chr19:36630200-36632200	Active TSS	Psoas Muscle	Psoas
15	chr19:36630200-36632200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr19:36630200-36632200	Active TSS	Right Atrium	heart
17	chr19:36630200-36632200	Active TSS	Right Ventricle	heart
18	chr19:36630200-36632200	Active TSS	K562	blood
19	chr19:36630200-36632400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:36630200-36632400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:36630200-36632400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr19:36630200-36632400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:36630200-36632400	Active TSS	Primary T cells from cord blood	blood
24	chr19:36630200-36632400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:36630200-36632400	Active TSS	Aorta	Aorta
26	chr19:36630200-36632400	Active TSS	Fetal Brain Female	brain
27	chr19:36630200-36632400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr19:36630200-36632600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr19:36630200-36632600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:36630200-36632600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:36630200-36632600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr19:36630200-36632600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:36630200-36632800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:36630200-36632800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr19:36630200-36632800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr19:36630200-36632800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr19:36630400-36632200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:36630400-36632200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:36630400-36632200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:36630400-36632200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:36630400-36632200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr19:36630400-36632200	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr19:36630400-36632200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr19:36630400-36632200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr19:36630400-36632200	Active TSS	Brain Angular Gyrus	brain
46	chr19:36630400-36632200	Active TSS	Brain Substantia Nigra	brain
47	chr19:36630400-36632200	Active TSS	Duodenum Mucosa	Duodenum
48	chr19:36630400-36632200	Active TSS	Fetal Brain Male	brain
49	chr19:36630400-36632200	Active TSS	Fetal Heart	heart
50	chr19:36630400-36632200	Active TSS	Fetal Intestine Large	intestine

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