Variant report

Variant	rs11207694
Chromosome Location	chr1:61549616-61549617
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	MXI1	chr1:61548537-61549841	IMR90	lung:	n/a	n/a
2	MAZ	chr1:61548654-61549719	K562	blood:	n/a	chr1:61548660-61548670 chr1:61548738-61548747 chr1:61548820-61548835 chr1:61548826-61548833
3	POLR2A	chr1:61547685-61549673	Hela-S3	cervix:	n/a	n/a
4	SMC3	chr1:61549554-61549687	Hela-S3	cervix:	n/a	n/a
5	CHD1	chr1:61549229-61549759	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:61547126-61549706	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:61547481-61549674	K562	blood:	n/a	n/a
8	SMARCB1	chr1:61547227-61549647	Hela-S3	cervix:	n/a	n/a
9	UBTF	chr1:61547796-61549650	K562	blood:	n/a	n/a
10	TAF1	chr1:61548864-61549639	K562	blood:	n/a	n/a
11	MAX	chr1:61547439-61549638	K562	blood:	n/a	chr1:61548660-61548670 chr1:61548738-61548747 chr1:61548820-61548835 chr1:61548826-61548833 chr1:61547871-61547881
12	UBTF	chr1:61547226-61550212	K562	blood:	n/a	n/a
13	RAD21	chr1:61549355-61549646	SK-N-SH_RA	brain:	n/a	n/a
14	CTBP2	chr1:61548594-61549705	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr1:61549199-61549860	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:61549613-61550580	MCF10A-Er-Src	breast:	n/a	n/a
17	HCFC1	chr1:61549165-61549650	K562	blood:	n/a	n/a
18	E2F6	chr1:61547636-61549650	K562	blood:	n/a	chr1:61549223-61549232 chr1:61547873-61547882 chr1:61549475-61549490 chr1:61548019-61548029
19	MAZ	chr1:61547596-61549652	Hela-S3	cervix:	n/a	chr1:61548660-61548670 chr1:61548738-61548747 chr1:61548820-61548835 chr1:61548826-61548833 chr1:61547871-61547881
20	TEAD4	chr1:61549386-61550021	K562	blood:	n/a	n/a
21	MYC	chr1:61546943-61550480	K562	blood:	n/a	chr1:61548660-61548670 chr1:61548738-61548747 chr1:61548820-61548835 chr1:61548826-61548833 chr1:61547871-61547881
22	MXI1	chr1:61541849-61550122	SK-N-SH	brain:	n/a	chr1:61544448-61544463
23	ZNF384	chr1:61549542-61549958	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:61549183..61550066-chr6:27860412..27861366,2	Hela-S3	cervix:
2	chr1:61513320..61528030-chr1:61539604..61553659,57	K562	blood:
3	chr1:61541387..61547328-chr1:61547444..61551394,9	MCF-7	breast:
4	chr1:61549496..61552254-chr1:61576363..61578271,2	K562	blood:
5	chr1:61512478..61530748-chr1:61539371..61553659,68	K562	blood:

Variant related genes	Relation type
ENSG00000263380	TF binding region
NFIA	TF binding region
ENSG00000162599	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196331	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10789092	0.83[EUR][1000 genomes]
rs10889207	0.85[EUR][1000 genomes]
rs11207690	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11207691	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207692	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207695	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11207696	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12126737	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12130085	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12142294	0.85[EUR][1000 genomes]
rs12403502	0.81[EUR][1000 genomes]
rs12404093	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12406426	0.84[ASN][1000 genomes]
rs12409737	0.85[EUR][1000 genomes]
rs1930314	0.85[EUR][1000 genomes]
rs2051153	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4915729	0.81[EUR][1000 genomes]
rs4915730	0.81[EUR][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	esv19873	chr1:61547702-61549738	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	esv3424493	chr1:61548189-61550737	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61545600-61550600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:61545600-61552000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:61545600-61553800	Active TSS	Aorta	Aorta
4	chr1:61545800-61550600	Active TSS	Fetal Muscle Trunk	muscle
5	chr1:61545800-61550600	Active TSS	Right Ventricle	heart
6	chr1:61546800-61549800	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:61546800-61550600	Active TSS	Colonic Mucosa	Colon
8	chr1:61547000-61549800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr1:61547000-61549800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:61547000-61549800	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr1:61547000-61550200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:61547000-61550200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:61547000-61550400	Active TSS	Brain Angular Gyrus	brain
14	chr1:61547000-61550400	Active TSS	HSMMtube	muscle
15	chr1:61547000-61550600	Active TSS	Left Ventricle	heart
16	chr1:61547000-61550600	Active TSS	Ovary	ovary
17	chr1:61547000-61552000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:61547000-61552000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:61547000-61554200	Active TSS	Right Atrium	heart
20	chr1:61547200-61549800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:61547200-61549800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:61547200-61549800	Active TSS	Pancreas	Pancrea
23	chr1:61547200-61550000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr1:61547200-61550200	Active TSS	Small Intestine	intestine
25	chr1:61547200-61550200	Bivalent/Poised TSS	HepG2	liver
26	chr1:61547200-61550200	Active TSS	NHDF-Ad	bronchial
27	chr1:61547200-61550400	Active TSS	Brain Substantia Nigra	brain
28	chr1:61547200-61550400	Active TSS	Esophagus	oesophagus
29	chr1:61547200-61550400	Active TSS	A549	lung
30	chr1:61547200-61550600	Active TSS	Colon Smooth Muscle	Colon
31	chr1:61547200-61550800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr1:61547200-61551400	Active TSS	Brain Hippocampus Middle	brain
33	chr1:61547200-61552000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:61547200-61552200	Active TSS	Rectal Smooth Muscle	rectum
35	chr1:61547400-61549800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr1:61547400-61549800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:61547400-61549800	Active TSS	Lung	lung
38	chr1:61547400-61550000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:61547400-61550000	Active TSS	Fetal Heart	heart
40	chr1:61547400-61550000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:61547400-61550000	Active TSS	Stomach Mucosa	stomach
42	chr1:61547400-61550200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:61547400-61550400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:61547400-61550600	Active TSS	Fetal Intestine Large	intestine
45	chr1:61547400-61550600	Active TSS	Fetal Intestine Small	intestine
46	chr1:61547400-61551000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:61547400-61551200	Active TSS	Fetal Stomach	stomach
48	chr1:61547400-61551400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:61547400-61553800	Active TSS	Stomach Smooth Muscle	stomach
50	chr1:61547600-61549800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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