Variant report

Variant	rs2231567
Chromosome Location	chr19:36605582-36605583
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	USF1	chr19:36605551-36606167	A549	lung:	n/a	n/a
2	HEY1	chr19:36605473-36606959	HepG2	liver:	n/a	chr19:36605499-36605514
3	FOXP2	chr19:36605131-36605587	PFSK-1	brain:	n/a	n/a
4	ELF1	chr19:36605016-36606976	A549	lung:	n/a	chr19:36605886-36605898
5	POLR2A	chr19:36605198-36607300	GM12878	blood:	n/a	n/a
6	MTA3	chr19:36604849-36606294	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:36605518-36606915	GM19099	blood:	n/a	n/a
8	POLR2A	chr19:36605269-36606949	GM18505	blood:	n/a	n/a
9	ELF1	chr19:36605531-36607059	MCF-7	breast:	n/a	chr19:36605886-36605898
10	MAX	chr19:36605251-36606591	Hela-S3	cervix:	n/a	chr19:36605493-36605503 chr19:36605885-36605895 chr19:36605681-36605691 chr19:36605869-36605879
11	TCF12	chr19:36605547-36606758	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr19:36605565-36606610	K562	blood:	n/a	n/a
13	GABPA	chr19:36605505-36606777	MCF-7	breast:	n/a	chr19:36606587-36606596 chr19:36606107-36606118 chr19:36606107-36606116 chr19:36606107-36606121 chr19:36606104-36606118 chr19:36606109-36606118
14	BHLHE40	chr19:36605272-36607179	GM12878	blood:	n/a	n/a
15	E2F6	chr19:36604839-36606607	K562	blood:	n/a	chr19:36606020-36606034 chr19:36606361-36606370 chr19:36604856-36604865 chr19:36605210-36605219 chr19:36605884-36605893 chr19:36606587-36606596 chr19:36606108-36606117
16	POLR2A	chr19:36605010-36607073	PANC-1	pancreas:	n/a	n/a
17	SIX5	chr19:36605235-36606624	A549	lung:	n/a	n/a
18	STAT1	chr19:36605541-36606854	GM12878	blood:	n/a	chr19:36606622-36606642 chr19:36606628-36606636 chr19:36606622-36606642 chr19:36606628-36606637 chr19:36606652-36606664 chr19:36606627-36606636 chr19:36606637-36606649
19	E2F6	chr19:36604990-36607379	A549	lung:	n/a	chr19:36606020-36606034 chr19:36606361-36606370 chr19:36605210-36605219 chr19:36605884-36605893 chr19:36606587-36606596 chr19:36606108-36606117
20	ATF3	chr19:36605049-36606612	A549	lung:	n/a	chr19:36605210-36605219 chr19:36606587-36606596
21	POLR2A	chr19:36604904-36606845	PFSK-1	brain:	n/a	n/a
22	MAX	chr19:36605424-36606750	K562	blood:	n/a	chr19:36605493-36605503 chr19:36605885-36605895 chr19:36605681-36605691 chr19:36605869-36605879
23	MAZ	chr19:36604752-36607281	IMR90	lung:	n/a	chr19:36606791-36606801 chr19:36605493-36605503 chr19:36605885-36605895 chr19:36605681-36605691 chr19:36605869-36605879
24	ATF3	chr19:36605333-36606658	A549	lung:	n/a	chr19:36606587-36606596
25	POLR2A	chr19:36605336-36606246	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr19:36604762-36606635	H1-hESC	embryonic stem cell:	n/a	chr19:36606020-36606034 chr19:36606361-36606370 chr19:36604856-36604865 chr19:36605210-36605219 chr19:36605884-36605893 chr19:36606587-36606596 chr19:36606108-36606117
27	TAF1	chr19:36605351-36607052	HepG2	liver:	n/a	n/a
28	POLR2A	chr19:36604905-36607077	MCF-7	breast:	n/a	n/a
29	ZBTB33	chr19:36605164-36606642	A549	lung:	n/a	n/a
30	POLR2A	chr19:36605255-36606778	MCF-7	breast:	n/a	n/a
31	MAX	chr19:36604753-36607476	A549	lung:	n/a	chr19:36606791-36606801 chr19:36605493-36605503 chr19:36605885-36605895 chr19:36605681-36605691 chr19:36605869-36605879
32	POLR2A	chr19:36605544-36606210	HepG2	liver:	n/a	n/a
33	RELA	chr19:36605569-36606885	GM12892	blood:	n/a	n/a
34	MTA3	chr19:36605040-36605684	GM12878	blood:	n/a	n/a
35	TAF1	chr19:36605484-36606616	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr19:36605548-36605621	GM19239	blood:	n/a	n/a
37	POLR2A	chr19:36605074-36606766	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr19:36605326-36606863	Raji	blood:	n/a	n/a
39	MBD4	chr19:36605479-36606199	HepG2	liver:	n/a	n/a
40	POLR2A	chr19:36605505-36606928	GM18951	blood:	n/a	n/a
41	RELA	chr19:36605550-36606927	GM19099	blood:	n/a	n/a
42	MYC	chr19:36605051-36606216	K562	blood:	n/a	chr19:36605493-36605503 chr19:36605885-36605895 chr19:36605681-36605691 chr19:36605869-36605879
43	RELA	chr19:36605548-36606635	GM10847	blood:	n/a	n/a
44	MAX	chr19:36605296-36606573	A549	lung:	n/a	chr19:36605493-36605503 chr19:36605885-36605895 chr19:36605681-36605691 chr19:36605869-36605879
45	RELA	chr19:36605392-36606468	GM18951	blood:	n/a	n/a
46	ELF1	chr19:36604429-36607146	GM12878	blood:	n/a	chr19:36605886-36605898
47	POLR2A	chr19:36605432-36606172	GM12892	blood:	n/a	n/a
48	MYC	chr19:36604881-36607095	A549	lung:	n/a	chr19:36606791-36606801 chr19:36605493-36605503 chr19:36605885-36605895 chr19:36605681-36605691 chr19:36605869-36605879
49	POLR2A	chr19:36605129-36607051	HUVEC	blood vessel:	n/a	n/a
50	YY1	chr19:36605490-36606664	SK-N-SH_RA	brain:	n/a	chr19:36606651-36606662 chr19:36605884-36605893 chr19:36605767-36605781 chr19:36606587-36606596 chr19:36605500-36605511

No.	Distal block	Cell Line	Cell type
1	chr19:36603757..36607457-chr19:36664359..36667558,3	MCF-7	breast:
2	chr19:36605358..36605965-chr21:37802132..37802835,2	Hela-S3	cervix:
3	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
4	chr1:94146477..94147235-chr19:36605467..36606382,2	Hela-S3	cervix:
5	chr13:111365280..111366051-chr19:36605506..36606391,2	Hela-S3	cervix:
6	chr19:36604785..36608680-chr19:36610341..36613498,5	K562	blood:
7	chr16:85784651..85786943-chr19:36604623..36606836,2	MCF-7	breast:
8	chr19:36543835..36550918-chr19:36603651..36608049,11	MCF-7	breast:
9	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
10	chr19:36604026..36607708-chr19:36630473..36633466,10	K562	blood:
11	chr19:36605206..36606094-chr6:26056170..26056718,2	Hela-S3	cervix:
12	chr19:36605408..36606315-chr2:9983471..9984383,2	Hela-S3	cervix:
13	chr19:36544216..36546740-chr19:36604520..36606743,4	K562	blood:
14	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:
15	chr19:36545240..36547330-chr19:36604696..36606743,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBCB-1	chr19:36605264-36606048	NONHSAT065958

Variant related genes	Relation type
TBCB	TF binding region
ENSG00000115750	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000267005	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000154102	Chromatin interaction
ENSG00000230479	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000161277	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16970889	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36604000-36608000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:36604400-36605600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr19:36604400-36605800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:36604400-36607000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:36604400-36607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:36604400-36607200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:36604400-36607400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:36604400-36607400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:36604600-36605600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:36604600-36605600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
11	chr19:36604600-36605600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr19:36604600-36605600	Flanking Active TSS	HUVEC	blood vessel
13	chr19:36604600-36606000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:36604600-36606000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:36604600-36606200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr19:36604600-36606200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:36604600-36606200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr19:36604600-36606200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr19:36604600-36607000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:36604600-36607000	Active TSS	Fetal Intestine Small	intestine
21	chr19:36604600-36607000	Active TSS	HSMMtube	muscle
22	chr19:36604600-36607200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:36604600-36607200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:36604600-36607200	Active TSS	Fetal Kidney	kidney
25	chr19:36604800-36605600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr19:36604800-36605600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:36604800-36605600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr19:36604800-36605600	Flanking Active TSS	Liver	Liver
29	chr19:36604800-36605600	Flanking Active TSS	Colonic Mucosa	Colon
30	chr19:36604800-36605600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr19:36604800-36605600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr19:36604800-36605600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr19:36604800-36605600	Flanking Active TSS	Placenta	Placenta
34	chr19:36604800-36605600	Flanking Active TSS	Fetal Stomach	stomach
35	chr19:36604800-36605800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr19:36604800-36605800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:36604800-36605800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:36604800-36605800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr19:36604800-36605800	Flanking Active TSS	HSMM	muscle
40	chr19:36604800-36606000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr19:36604800-36606000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr19:36604800-36606200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr19:36604800-36606200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr19:36604800-36606200	Flanking Active TSS	Fetal Thymus	thymus
45	chr19:36604800-36606200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr19:36604800-36607000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:36604800-36607000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:36604800-36607000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:36604800-36607000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:36604800-36607000	Active TSS	Ovary	ovary

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