Variant report

Variant	rs1171832
Chromosome Location	chr10:61667817-61667818
allele	C/G
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	TBP	chr10:61667589-61668528	GM12878	blood:	n/a	n/a
2	JUN	chr10:61667378-61668623	K562	blood:	n/a	chr10:61667781-61667794
3	RAD21	chr10:61667817-61668551	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr10:61667748-61668567	NB4	blood:	n/a	n/a
5	TEAD4	chr10:61667604-61668600	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr10:61667772-61667906	ProgFib	skin:	n/a	n/a
7	MYC	chr10:61667457-61668557	K562	blood:	n/a	n/a
8	POLR2A	chr10:61667629-61667997	HCT-116	colon:	n/a	n/a
9	STAT3	chr10:61667620-61667823	MCF10A-Er-Src	breast:	n/a	n/a
10	MTA3	chr10:61667174-61668457	GM12878	blood:	n/a	n/a
11	ATF2	chr10:61667526-61668554	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:61667729-61668528	K562	blood:	n/a	n/a
13	GTF2F1	chr10:61667743-61668805	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOS	chr10:61667574-61668650	MCF10A-Er-Src	breast:	n/a	n/a
15	CHD1	chr10:61666163-61668331	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr10:61667638-61667953	SK-N-SH_RA	brain:	n/a	n/a
17	POLR2A	chr10:61667358-61668585	K562	blood:	n/a	n/a
18	MAX	chr10:61667412-61668533	NB4	blood:	n/a	n/a
19	KAP1	chr10:61667716-61668751	HEK293	kidney:	n/a	n/a
20	POLR2A	chr10:61667666-61668570	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr10:61667623-61668540	A549	lung:	n/a	n/a
22	CEBPB	chr10:61667626-61668586	Hela-S3	cervix:	n/a	n/a
23	ZNF384	chr10:61667588-61668690	K562	blood:	n/a	n/a
24	POLR2A	chr10:61667655-61667973	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr10:61667660-61668163	A549	lung:	n/a	n/a
26	YY1	chr10:61667591-61668003	ECC-1	luminal epithelium:	n/a	n/a
27	EBF1	chr10:61667421-61667905	GM12878	blood:	n/a	n/a
28	TEAD4	chr10:61667679-61668641	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr10:61667558-61667919	K562	blood:	n/a	n/a
30	IRF1	chr10:61666168-61668942	K562	blood:	n/a	chr10:61667506-61667517 chr10:61667505-61667519 chr10:61667497-61667517 chr10:61667505-61667516 chr10:61667503-61667516 chr10:61667129-61667149 chr10:61667482-61667492 chr10:61668056-61668076 chr10:61668006-61668013 chr10:61666670-61666683 chr10:61667505-61667515 chr10:61666669-61666683 chr10:61667503-61667516 chr10:61667504-61667518 chr10:61667481-61667493 chr10:61667301-61667315 chr10:61667503-61667517 chr10:61667502-61667519 chr10:61666671-61666685 chr10:61667041-61667055 chr10:61667504-61667521 chr10:61667501-61667515 chr10:61667504-61667516 chr10:61667502-61667516 chr10:61667503-61667516
31	POLR2A	chr10:61664545-61668549	GM12878	blood:	n/a	n/a
32	EP300	chr10:61667399-61668666	K562	blood:	n/a	chr10:61667552-61667560
33	RFX5	chr10:61667752-61667835	HepG2	liver:	n/a	n/a
34	RCOR1	chr10:61667813-61668415	K562	blood:	n/a	n/a
35	BRCA1	chr10:61667494-61668724	Hela-S3	cervix:	n/a	chr10:61667604-61667611
36	YY1	chr10:61667651-61667957	HCT-116	colon:	n/a	n/a
37	ZNF143	chr10:61667607-61668812	K562	blood:	n/a	chr10:61668498-61668507
38	EP300	chr10:61666250-61667844	GM12878	blood:	n/a	chr10:61667552-61667560 chr10:61667040-61667054 chr10:61667042-61667056 chr10:61667118-61667132 chr10:61667125-61667139
39	JUN	chr10:61667611-61667929	HepG2	liver:	n/a	chr10:61667781-61667794
40	YY1	chr10:61667607-61668521	ECC-1	luminal epithelium:	n/a	n/a
41	FOS	chr10:61667627-61667907	MCF10A-Er-Src	breast:	n/a	n/a
42	UBTF	chr10:61667730-61668570	K562	blood:	n/a	n/a
43	JUND	chr10:61667393-61668527	K562	blood:	n/a	n/a
44	CHD2	chr10:61667620-61668759	H1-hESC	embryonic stem cell:	n/a	n/a
45	SP1	chr10:61667604-61669013	HCT-116	colon:	n/a	n/a
46	PML	chr10:61667807-61668593	K562	blood:	n/a	n/a
47	FOXA2	chr10:61667717-61667996	HepG2	liver:	n/a	n/a
48	YY1	chr10:61667594-61667912	GM12892	blood:	n/a	n/a
49	POLR2A	chr10:61667365-61668671	K562	blood:	n/a	n/a
50	POLR2A	chr10:61665795-61668532	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:61667557..61668357-chr7:35734692..35735246,2	NB4	blood:
2	chr10:61667263..61669054-chr10:61680028..61682493,2	MCF-7	breast:
3	chr10:61666623..61668608-chr10:61670476..61672736,2	MCF-7	breast:
4	chr10:61667421..61670860-chr10:61671929..61674509,5	K562	blood:
5	chr10:61667520..61669749-chr10:61807482..61809424,2	MCF-7	breast:
6	chr10:61666876..61669628-chr10:61791272..61793178,2	MCF-7	breast:
7	chr10:61632812..61634893-chr10:61666626..61669207,2	K562	blood:
8	chr10:61666832..61668481-chr10:61785345..61787777,2	K562	blood:
9	chr10:61666545..61669325-chr10:61676846..61678686,2	MCF-7	breast:

Variant related genes	Relation type
CCDC6	TF binding region
ENSG00000122557	Chromatin interaction
ENSG00000271122	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1171812	0.81[AMR][1000 genomes]
rs1171814	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1171830	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1684913	0.81[AFR][1000 genomes]
rs978353	0.83[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	esv1795420	chr10:61637271-61669227	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	esv1800316	chr10:61639599-61700473	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61663400-61668400	Active TSS	Aorta	Aorta
2	chr10:61664200-61668800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:61664600-61668800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr10:61664800-61668600	Active TSS	Right Atrium	heart
5	chr10:61664800-61668800	Active TSS	Stomach Smooth Muscle	stomach
6	chr10:61665000-61668400	Active TSS	NHLF	lung
7	chr10:61665000-61668600	Active TSS	Fetal Stomach	stomach
8	chr10:61665000-61668800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:61665200-61668800	Active TSS	Brain Angular Gyrus	brain
10	chr10:61665200-61668800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr10:61665400-61668600	Active TSS	Colonic Mucosa	Colon
12	chr10:61665400-61668600	Active TSS	GM12878-XiMat	blood
13	chr10:61665400-61668800	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr10:61665800-61668400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:61665800-61668600	Active TSS	Brain Germinal Matrix	brain
16	chr10:61666600-61668600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr10:61666600-61668600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr10:61666600-61668600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:61666600-61668600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:61666600-61668600	Flanking Active TSS	Liver	Liver
21	chr10:61666600-61668800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:61666600-61668800	Flanking Active TSS	HUVEC	blood vessel
23	chr10:61666600-61669000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:61666800-61668000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr10:61666800-61668000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr10:61666800-61668000	Flanking Active TSS	Stomach Mucosa	stomach
27	chr10:61666800-61668000	Flanking Active TSS	HSMM	muscle
28	chr10:61666800-61668200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:61666800-61668200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr10:61666800-61668200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr10:61666800-61668200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:61666800-61668200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr10:61666800-61668200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr10:61666800-61668200	Flanking Active TSS	Hela-S3	cervix
35	chr10:61666800-61668400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:61666800-61668400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:61666800-61668400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr10:61666800-61668400	Flanking Active TSS	HMEC	breast
39	chr10:61666800-61668600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:61666800-61668600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr10:61666800-61668600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr10:61666800-61668600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr10:61666800-61668600	Flanking Active TSS	Dnd41	blood
44	chr10:61666800-61668600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr10:61666800-61668600	Flanking Active TSS	NH-A	brain
46	chr10:61666800-61668600	Flanking Active TSS	NHEK	skin
47	chr10:61666800-61668800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr10:61666800-61668800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr10:61667000-61668000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:61667000-61668000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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