Variant report

Variant	rs10774559
Chromosome Location	chr12:121018862-121018863
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	POLR2A	chr12:121018751-121019568	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:121018701-121019655	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:121018811-121019611	MCF-7	breast:	n/a	n/a
4	REST	chr12:121018620-121019790	H1-neurons	neurons:	n/a	n/a
5	FOSL2	chr12:121018791-121019790	A549	lung:	n/a	chr12:121019222-121019231
6	POLR2A	chr12:121017912-121019735	PANC-1	pancreas:	n/a	n/a
7	YY1	chr12:121018804-121019601	SK-N-SH	brain:	n/a	chr12:121019063-121019074
8	GABPA	chr12:121018689-121019647	A549	lung:	n/a	chr12:121019350-121019364 chr12:121019353-121019364 chr12:121019353-121019362
9	JUND	chr12:121018543-121020214	SK-N-SH	brain:	n/a	chr12:121019222-121019231
10	SIN3A	chr12:121018596-121019768	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr12:121018742-121019477	K562	blood:	n/a	chr12:121019063-121019074
12	POLR2A	chr12:121018127-121019643	PANC-1	pancreas:	n/a	n/a
13	YY1	chr12:121018735-121019565	A549	lung:	n/a	chr12:121019063-121019074
14	POLR2A	chr12:121016717-121019832	SK-N-MC	brain:	n/a	n/a
15	BCLAF1	chr12:121018810-121019652	GM12878	blood:	n/a	n/a
16	ETS1	chr12:121018753-121019580	A549	lung:	n/a	chr12:121019199-121019208 chr12:121019199-121019208 chr12:121019199-121019208 chr12:121019199-121019208 chr12:121019196-121019211 chr12:121019195-121019211
17	POLR2A	chr12:121018805-121019612	GM18526	blood:	n/a	n/a
18	YY1	chr12:121018721-121019565	GM12878	blood:	n/a	chr12:121019063-121019074
19	CCNT2	chr12:121018784-121019422	K562	blood:	n/a	n/a
20	RUNX3	chr12:121018814-121019608	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:121018746-121019589	A549	lung:	n/a	n/a
22	POLR2A	chr12:121018612-121019590	K562	blood:	n/a	n/a
23	MXI1	chr12:121018832-121019600	Hela-S3	cervix:	n/a	n/a
24	YY1	chr12:121018762-121019548	HepG2	liver:	n/a	chr12:121019063-121019074
25	POLR2A	chr12:121018713-121019591	GM12878	blood:	n/a	n/a
26	SIX5	chr12:121018349-121019593	A549	lung:	n/a	n/a
27	TAF1	chr12:121018806-121019402	GM12892	blood:	n/a	n/a
28	SIN3AK20	chr12:121018822-121019258	PANC-1	pancreas:	n/a	n/a
29	BHLHE40	chr12:121018856-121019501	K562	blood:	n/a	n/a
30	POLR2A	chr12:121018795-121019710	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr12:121017993-121019705	MCF-7	breast:	n/a	n/a
32	GABPA	chr12:121018666-121019636	MCF-7	breast:	n/a	chr12:121019350-121019364 chr12:121019353-121019364 chr12:121019353-121019362
33	POU2F2	chr12:121018825-121019624	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:121018769-121019517	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAZ	chr12:121018810-121019533	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:121018823-121019438	GM12891	blood:	n/a	n/a
37	YY1	chr12:121018780-121019276	GM12891	blood:	n/a	chr12:121019063-121019074
38	MAX	chr12:121018838-121019567	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr12:121018753-121019613	GM12892	blood:	n/a	n/a
40	MAX	chr12:121018667-121019629	MCF-7	breast:	n/a	n/a
41	POLR2A	chr12:121016295-121019718	A549	lung:	n/a	n/a
42	GABPA	chr12:121018844-121019500	HL-60	blood:	n/a	chr12:121019350-121019364 chr12:121019353-121019364 chr12:121019353-121019362
43	YY1	chr12:121018823-121019640	SK-N-SH_RA	brain:	n/a	chr12:121019063-121019074
44	POLR2A	chr12:121018709-121019604	K562	blood:	n/a	n/a
45	BCL3	chr12:121018607-121019840	A549	lung:	n/a	n/a
46	MAX	chr12:121018633-121019808	A549	lung:	n/a	n/a
47	POLR2A	chr12:121018797-121019508	A549	lung:	n/a	n/a
48	POLR2A	chr12:121018218-121019718	HUVEC	blood vessel:	n/a	n/a
49	FOXM1	chr12:121018803-121019482	GM12878	blood:	n/a	n/a
50	MAX	chr12:121018795-121019478	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121018631..121021385-chr12:121124185..121125689,2	MCF-7	breast:
2	chr12:120970635..120973356-chr12:121018386..121020894,3	K562	blood:
3	chr12:120905819..120908222-chr12:121018300..121020103,2	MCF-7	breast:
4	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
5	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
6	chr12:121002647..121005056-chr12:121017144..121019429,2	MCF-7	breast:
7	chr1:19923267..19923950-chr12:121018737..121019591,2	Hela-S3	cervix:
8	chr12:121018252..121018999-chr3:48228737..48229264,2	Hela-S3	cervix:
9	chr12:121018631..121020878-chr12:121162530..121164769,2	MCF-7	breast:
10	chr12:120994023..120996050-chr12:121018061..121019874,2	K562	blood:
11	chr12:120965360..120967085-chr12:121018477..121020344,2	MCF-7	breast:

Variant related genes	Relation type
POP5	TF binding region
ENSG00000122971	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000235185	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000173436	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000270136	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1037611	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774550	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774557	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774558	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849756	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849760	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849762	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849764	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065144	0.88[EUR][1000 genomes]
rs11065147	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065157	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065158	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065163	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065164	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151845	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1151846	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1167688	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1167696	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167699	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167701	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167702	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167704	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1167705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1167706	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1167713	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167714	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167715	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167716	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167719	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167720	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167721	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167722	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167723	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167724	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1179460	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179462	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1179463	0.81[EUR][1000 genomes]
rs1179464	0.82[EUR][1000 genomes]
rs12227470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12369178	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12370706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1592361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1671762	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1671765	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1671766	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1671769	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1710130	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1710132	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1710142	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1710143	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1710144	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1710146	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1794751	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1794752	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235223	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292680	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301456	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2673623	0.80[ASN][1000 genomes]
rs2673624	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2673625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28390349	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3088345	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35801170	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3847971	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767898	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs526176	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606443	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs634688	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs637799	0.82[ASN][1000 genomes]
rs667913	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs671566	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs680795	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135855	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7307666	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs787818	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787821	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs787822	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs787823	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs787826	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs787828	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs787830	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787831	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787833	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787834	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963890	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972060	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs812560	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8903	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9669663	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv973944	chr12:121017088-121027122	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	14 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	chr12:121017800-121019600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:121018000-121019000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr12:121018000-121019000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:121018000-121019400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:121018000-121019400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:121018000-121019400	Active TSS	Fetal Kidney	kidney
7	chr12:121018000-121019600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:121018000-121019600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:121018000-121019600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:121018000-121020000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:121018200-121019600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:121018200-121019800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:121018200-121019800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:121018200-121020000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:121018200-121020000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:121018200-121020200	Active TSS	Rectal Smooth Muscle	rectum
17	chr12:121018400-121019000	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr12:121018400-121019000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:121018400-121019000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr12:121018400-121019000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:121018400-121019000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:121018400-121019000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr12:121018400-121019000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:121018400-121019200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:121018400-121019400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:121018400-121019400	Active TSS	HMEC	breast
27	chr12:121018400-121019400	Active TSS	HSMM	muscle
28	chr12:121018400-121019400	Active TSS	NH-A	brain
29	chr12:121018400-121019600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:121018400-121019600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:121018400-121019800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:121018400-121019800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:121018400-121019800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:121018400-121019800	Active TSS	Fetal Intestine Large	intestine
35	chr12:121018400-121019800	Active TSS	Psoas Muscle	Psoas
36	chr12:121018400-121019800	Active TSS	A549	lung
37	chr12:121018400-121019800	Active TSS	HSMMtube	muscle
38	chr12:121018400-121020000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:121018400-121020000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:121018400-121020000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr12:121018400-121020000	Active TSS	Brain Angular Gyrus	brain
42	chr12:121018400-121020000	Active TSS	Colonic Mucosa	Colon
43	chr12:121018400-121020000	Active TSS	GM12878-XiMat	blood
44	chr12:121018400-121020200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:121018400-121020200	Active TSS	Thymus	Thymus
46	chr12:121018600-121019000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr12:121018600-121019000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:121018600-121019000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:121018600-121019000	Flanking Active TSS	Fetal Heart	heart
50	chr12:121018600-121019000	Active TSS	Fetal Lung	lung

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