Variant report

Variant	rs7297776
Chromosome Location	chr12:123012111-123012112
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	TEAD4	chr12:123011019-123012493	K562	blood:	n/a	n/a
2	ELF1	chr12:123011026-123012198	SK-N-SH	brain:	n/a	chr12:123011719-123011730
3	YY1	chr12:123010931-123012171	K562	blood:	n/a	chr12:123011276-123011285 chr12:123011282-123011304 chr12:123011202-123011213 chr12:123011113-123011123 chr12:123011243-123011265 chr12:123011279-123011299 chr12:123011249-123011271 chr12:123011280-123011299 chr12:123011285-123011293
4	POLR2A	chr12:123010593-123012435	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr12:123010866-123012574	HUVEC	blood vessel:	n/a	n/a
6	EP300	chr12:123011051-123012343	K562	blood:	n/a	n/a
7	POLR2A	chr12:123011081-123012145	MCF-7	breast:	n/a	n/a
8	MTA3	chr12:123010924-123012151	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:123009940-123012418	IMR90	lung:	n/a	n/a
10	TEAD4	chr12:123010588-123012301	K562	blood:	n/a	n/a
11	ELF1	chr12:123010960-123012469	A549	lung:	n/a	chr12:123011719-123011730
12	POLR2A	chr12:123010854-123012504	MCF-7	breast:	n/a	n/a
13	TAF1	chr12:123011029-123012181	H1-neurons	neurons:	n/a	n/a
14	E2F6	chr12:123011424-123012427	H1-hESC	embryonic stem cell:	n/a	chr12:123011785-123011796 chr12:123011786-123011798
15	HCFC1	chr12:123010603-123012998	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:123011086-123012307	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:123011135-123012371	GM10847	blood:	n/a	n/a
18	MXI1	chr12:123010714-123012604	Hela-S3	cervix:	n/a	n/a
19	SRF	chr12:123011021-123012223	MCF-7	breast:	n/a	chr12:123011645-123011655
20	TAF1	chr12:123010974-123012149	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr12:123011059-123012190	A549	lung:	n/a	n/a
22	POLR2A	chr12:123011097-123012516	GM18526	blood:	n/a	n/a
23	POLR2A	chr12:123010628-123012557	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:123010669-123012504	GM18505	blood:	n/a	n/a
25	MYBL2	chr12:123010778-123012199	HepG2	liver:	n/a	n/a
26	BCL3	chr12:123010650-123012597	A549	lung:	n/a	chr12:123011026-123011035
27	POLR2A	chr12:123010992-123012518	K562	blood:	n/a	n/a
28	MAX	chr12:123010970-123012450	SK-N-SH	brain:	n/a	chr12:123011645-123011655
29	EGR1	chr12:123010858-123012214	HCT-116	colon:	n/a	n/a
30	POLR2A	chr12:123010509-123012618	GM12892	blood:	n/a	n/a
31	GABPA	chr12:123011166-123012421	HL-60	blood:	n/a	n/a
32	MXI1	chr12:123010579-123012513	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr12:123010609-123012495	H1-hESC	embryonic stem cell:	n/a	n/a
34	TBL1XR1	chr12:123010864-123012163	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:123011660-123012493	GM12891	blood:	n/a	n/a
36	FOSL2	chr12:123010763-123012251	A549	lung:	n/a	chr12:123011838-123011849 chr12:123011838-123011850 chr12:123011840-123011848
37	MXI1	chr12:123010674-123012362	GM12878	blood:	n/a	n/a
38	YY1	chr12:123010654-123012249	SK-N-SH	brain:	n/a	chr12:123011276-123011285 chr12:123011282-123011304 chr12:123011202-123011213 chr12:123011113-123011123 chr12:123011243-123011265 chr12:123011279-123011299 chr12:123011249-123011271 chr12:123011280-123011299 chr12:123011285-123011293
39	ZMIZ1	chr12:123010979-123012379	K562	blood:	n/a	n/a
40	MYBL2	chr12:123010894-123012240	HepG2	liver:	n/a	n/a
41	RELA	chr12:123010942-123012385	GM15510	blood:	n/a	n/a
42	YY1	chr12:123010935-123012216	H1-hESC	embryonic stem cell:	n/a	chr12:123011276-123011285 chr12:123011282-123011304 chr12:123011202-123011213 chr12:123011113-123011123 chr12:123011243-123011265 chr12:123011279-123011299 chr12:123011249-123011271 chr12:123011280-123011299 chr12:123011285-123011293
43	POLR2A	chr12:123010508-123012583	GM12892	blood:	n/a	n/a
44	POLR2A	chr12:123011050-123012409	ProgFib	skin:	n/a	n/a
45	TEAD4	chr12:123010991-123012153	A549	lung:	n/a	n/a
46	PML	chr12:123010907-123012403	K562	blood:	n/a	n/a
47	POLR2A	chr12:123010599-123012490	PANC-1	pancreas:	n/a	n/a
48	TAF1	chr12:123010653-123012382	PFSK-1	brain:	n/a	n/a
49	ATF2	chr12:123010636-123012243	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:123011101-123012159	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122709233..122712275-chr12:123010129..123013029,3	K562	blood:
2	chr12:122882637..122886040-chr12:123010001..123012682,3	MCF-7	breast:
3	chr1:46597863..46598757-chr12:123011345..123012154,2	Hela-S3	cervix:
4	chr12:122906748..122909467-chr12:123010139..123012944,2	K562	blood:
5	chr11:32851076..32851981-chr12:123011655..123012268,2	Hela-S3	cervix:
6	chr12:123009641..123013041-chr12:123093053..123097873,6	MCF-7	breast:
7	chr12:123011591..123012143-chr16:103058..103696,2	Hela-S3	cervix:
8	chr1:28974869..28976076-chr12:123010565..123012157,4	Hela-S3	cervix:
9	chr12:123011230..123012154-chr17:37025913..37026423,2	Hela-S3	cervix:
10	chr12:122966266..122967783-chr12:123009497..123012466,2	MCF-7	breast:
11	chr12:122880014..122886193-chr12:123009799..123012848,10	K562	blood:
12	chr12:122884270..122886424-chr12:123011596..123013122,2	MCF-7	breast:
13	chr1:36689861..36690439-chr12:123011903..123012751,2	Hela-S3	cervix:
14	chr12:122968114..122970441-chr12:123011452..123013328,2	K562	blood:
15	chr12:123011300..123013199-chr12:123092226..123093846,2	MCF-7	breast:
16	chr12:123010320..123012822-chr19:11200189..11202777,2	K562	blood:
17	chr12:123011295..123012224-chr6:16128859..16129475,2	Hela-S3	cervix:
18	chr12:123011807..123016958-chr12:123025504..123030876,9	K562	blood:
19	chr12:122883532..122886049-chr12:123009837..123012984,6	K562	blood:
20	chr12:123010329..123013125-chr12:123046690..123050280,3	MCF-7	breast:
21	chr12:123011327..123012217-chr17:16342193..16342796,2	Hela-S3	cervix:
22	chr12:122750925..122753898-chr12:123011768..123013408,2	MCF-7	breast:
23	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
24	chr11:63741894..63742574-chr12:123011258..123012213,2	Hela-S3	cervix:

Variant related genes	Relation type
RSRC2	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000255972	Chromatin interaction
ENSG00000135378	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000002834	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000007944	Chromatin interaction
ENSG00000054118	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000130164	Chromatin interaction
ENSG00000161980	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12302908	0.83[AMR][1000 genomes]
rs55935830	0.90[AFR][1000 genomes]
rs56019922	0.86[AFR][1000 genomes]
rs56977093	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56990369	0.90[AFR][1000 genomes]
rs57142071	0.86[AFR][1000 genomes]
rs57766838	0.91[AFR][1000 genomes]
rs58276954	0.90[AFR][1000 genomes]
rs58459934	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60586933	0.85[AFR][1000 genomes]
rs61062446	0.91[AFR][1000 genomes]
rs61275910	0.86[AFR][1000 genomes]
rs61585633	1.00[AFR][1000 genomes]
rs7134209	0.86[AFR][1000 genomes]
rs7307052	0.83[AFR][1000 genomes]
rs7310898	0.86[AFR][1000 genomes]
rs7960674	0.85[AFR][1000 genomes]
rs7972727	0.98[AFR][1000 genomes]
rs7973067	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 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	chr12:123006800-123012200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:123007200-123012800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:123007800-123012200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:123008200-123012200	Active TSS	HSMMtube	muscle
5	chr12:123008200-123012400	Active TSS	Ovary	ovary
6	chr12:123008200-123012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:123008200-123012800	Active TSS	Right Atrium	heart
8	chr12:123008200-123013200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:123008400-123012400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr12:123008400-123013200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:123008400-123013200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:123008400-123013200	Active TSS	NHDF-Ad	bronchial
13	chr12:123008600-123012800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:123008800-123012600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:123008800-123013000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:123008800-123013200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:123009200-123012600	Active TSS	Thymus	Thymus
18	chr12:123009200-123012800	Active TSS	Colonic Mucosa	Colon
19	chr12:123009200-123012800	Active TSS	Fetal Intestine Small	intestine
20	chr12:123009400-123012600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:123009400-123013000	Active TSS	GM12878-XiMat	blood
22	chr12:123009600-123012200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:123009600-123012200	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:123009600-123012200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:123009600-123012200	Active TSS	Brain Anterior Caudate	brain
26	chr12:123009600-123012200	Active TSS	Colon Smooth Muscle	Colon
27	chr12:123009600-123012200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr12:123009600-123012200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr12:123009600-123012200	Active TSS	Fetal Brain Female	brain
30	chr12:123009600-123012200	Active TSS	Fetal Lung	lung
31	chr12:123009600-123012200	Active TSS	NHLF	lung
32	chr12:123009600-123012400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:123009600-123012400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:123009600-123012400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:123009600-123012400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:123009600-123012400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:123009600-123012400	Active TSS	Fetal Kidney	kidney
38	chr12:123009600-123012400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr12:123009600-123012400	Active TSS	NH-A	brain
40	chr12:123009600-123012400	Active TSS	Osteobl	bone
41	chr12:123009600-123012600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:123009600-123012600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:123009600-123012600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:123009600-123012600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:123009600-123012600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:123009600-123012600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:123009600-123012600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:123009600-123012600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:123009600-123012600	Active TSS	Psoas Muscle	Psoas
50	chr12:123009600-123012600	Active TSS	Hela-S3	cervix

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