Variant report

Variant	rs831602
Chromosome Location	chr11:33758353-33758354
allele	A/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	MAX	chr11:33757827-33758487	HepG2	liver:	n/a	n/a
2	TFAP2A	chr11:33757624-33759014	Hela-S3	cervix:	n/a	chr11:33757640-33757652 chr11:33758011-33758023 chr11:33758673-33758687 chr11:33757640-33757652 chr11:33757640-33757652 chr11:33758351-33758362 chr11:33758673-33758687 chr11:33757640-33757654 chr11:33758012-33758023 chr11:33758347-33758362 chr11:33758351-33758362 chr11:33758351-33758362 chr11:33758351-33758362 chr11:33757640-33757654
3	MAZ	chr11:33757253-33759530	IMR90	lung:	n/a	chr11:33757825-33757835
4	E2F6	chr11:33757668-33758651	A549	lung:	n/a	chr11:33757690-33757704
5	MYC	chr11:33758308-33758433	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr11:33757695-33758656	SK-N-SH	brain:	n/a	chr11:33757825-33757835
7	TEAD4	chr11:33757409-33759628	K562	blood:	n/a	n/a
8	HEY1	chr11:33757709-33758432	HepG2	liver:	n/a	n/a
9	TAF1	chr11:33757238-33758356	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:33757427-33758598	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:33757534-33759812	PBDE	blood:	n/a	n/a
12	EGR1	chr11:33757713-33758360	MCF-7	breast:	n/a	chr11:33757969-33757991 chr11:33757974-33757987 chr11:33757971-33757985 chr11:33758109-33758122 chr11:33757974-33757987 chr11:33758110-33758119 chr11:33757835-33757845
13	POLR2A	chr11:33757611-33758397	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:33757373-33758827	U87	brain:	n/a	n/a
15	GATA1	chr11:33757516-33759858	PBDE	blood:	n/a	chr11:33759815-33759825
16	IRF1	chr11:33757885-33758439	K562	blood:	n/a	chr11:33758280-33758294 chr11:33758005-33758019 chr11:33758196-33758210 chr11:33758195-33758204 chr11:33758193-33758210 chr11:33758018-33758032 chr11:33758196-33758206
17	POLR2A	chr11:33757529-33759454	K562	blood:	n/a	n/a
18	ZNF143	chr11:33757565-33758627	Hela-S3	cervix:	n/a	chr11:33757850-33757860
19	POLR2A	chr11:33757624-33758431	HCT-116	colon:	n/a	n/a
20	POLR2A	chr11:33757630-33758382	ProgFib	skin:	n/a	n/a
21	POLR2A	chr11:33757715-33758387	HepG2	liver:	n/a	n/a
22	ZKSCAN1	chr11:33757765-33759036	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:33757727-33759197	K562	blood:	n/a	n/a
24	MXI1	chr11:33756284-33758784	Hela-S3	cervix:	n/a	n/a
25	GATA1	chr11:33757572-33759865	K562	blood:	n/a	chr11:33759815-33759825
26	POLR2A	chr11:33755157-33758957	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr11:33758274-33759534	K562	blood:	n/a	n/a
28	POLR2A	chr11:33757641-33758652	U87	brain:	n/a	n/a
29	SP1	chr11:33757776-33758364	A549	lung:	n/a	chr11:33758022-33758031 chr11:33758020-33758032 chr11:33758007-33758019 chr11:33758021-33758035 chr11:33758008-33758017 chr11:33758021-33758030 chr11:33758020-33758032 chr11:33758021-33758031 chr11:33758008-33758022 chr11:33758021-33758030 chr11:33758007-33758019 chr11:33758009-33758018 chr11:33758021-33758031
30	MYC	chr11:33757386-33759587	K562	blood:	n/a	chr11:33757825-33757835
31	MAFK	chr11:33757859-33758555	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:33755307-33758464	MCF10A-Er-Src	breast:	n/a	n/a
33	CHD2	chr11:33757456-33758902	Hela-S3	cervix:	n/a	n/a
34	RCOR1	chr11:33756708-33758959	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:33757516-33758522	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr11:33755830-33758637	PANC-1	pancreas:	n/a	n/a
37	EGR1	chr11:33757484-33758687	HCT-116	colon:	n/a	chr11:33757969-33757991 chr11:33757974-33757987 chr11:33757971-33757985 chr11:33758109-33758122 chr11:33757974-33757987 chr11:33758110-33758119 chr11:33757835-33757845
38	MXI1	chr11:33755920-33759639	IMR90	lung:	n/a	n/a
39	TAF1	chr11:33757643-33758749	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:33757587-33758519	MCF-7	breast:	n/a	n/a
41	TBL1XR1	chr11:33757897-33759541	K562	blood:	n/a	n/a
42	POLR2A	chr11:33757378-33758366	K562	blood:	n/a	n/a
43	UBTF	chr11:33757413-33759483	K562	blood:	n/a	n/a
44	POLR2A	chr11:33755260-33759001	PANC-1	pancreas:	n/a	n/a
45	TAF1	chr11:33757302-33758390	A549	lung:	n/a	n/a
46	POLR2A	chr11:33757455-33758516	PFSK-1	brain:	n/a	n/a
47	ELK1	chr11:33757875-33758361	Hela-S3	cervix:	n/a	n/a
48	ZMIZ1	chr11:33757859-33758386	K562	blood:	n/a	n/a
49	RAD21	chr11:33757979-33759059	Hela-S3	cervix:	n/a	chr11:33758602-33758616
50	NRF1	chr11:33757356-33758644	SK-N-SH	brain:	n/a	chr11:33758070-33758081

No.	Distal block	Cell Line	Cell type
1	chr11:33757533..33758403-chr3:64008748..64009625,2	MCF-7	breast:
2	chr11:33757403..33758388-chr17:8286172..8286715,2	Hela-S3	cervix:
3	chr11:33181954..33184910-chr11:33755905..33758961,3	K562	blood:
4	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
5	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
6	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
7	chr11:33757628..33758397-chr7:64466569..64467103,2	Hela-S3	cervix:
8	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
9	chr11:33757603..33758362-chrX:47004560..47005124,2	Hela-S3	cervix:
10	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
11	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
12	chr11:33758107..33758607-chr6:157342381..157342882,2	HCT-116	colon:
13	chr11:33730241..33733771-chr11:33754827..33758431,3	K562	blood:
14	chr11:33757943..33758622-chr3:186500993..186501534,2	Hela-S3	cervix:
15	chr11:33757539..33758409-chr3:149095089..149095776,2	Hela-S3	cervix:
16	chr11:33757745..33758430-chr19:55919090..55919756,2	Hela-S3	cervix:
17	chr11:33758345..33758882-chr17:6916933..6917456,2	Hela-S3	cervix:
18	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
19	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
20	chr11:33757702..33758578-chr17:56708712..56709407,2	HCT-116	colon:
21	chr1:173836645..173837514-chr11:33757450..33758406,2	Hela-S3	cervix:
22	chr11:33756868..33759532-chr11:33768759..33770986,2	MCF-7	breast:
23	chr11:33757852..33758677-chr15:65596828..65597702,2	Hela-S3	cervix:
24	chr11:33757917..33758851-chr20:33680266..33680784,2	Hela-S3	cervix:
25	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:

Variant related genes	Relation type
CD59	TF binding region
ENSG00000185278	Chromatin interaction
ENSG00000254508	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000161939	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000156976	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000240541	Chromatin interaction
ENSG00000213462	Chromatin interaction
ENSG00000263809	Chromatin interaction
ENSG00000152926	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000169908	Chromatin interaction
ENSG00000161970	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000255272	Chromatin interaction
ENSG00000100991	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000247151	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1402956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1522088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1632527	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2177123	0.83[AMR][1000 genomes]
rs2231453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421209	0.86[AMR][1000 genomes]
rs2686246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831597	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs831598	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831623	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831626	0.89[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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr11:33754000-33758600	Active TSS	Right Ventricle	heart
2	chr11:33754800-33758400	Active TSS	Psoas Muscle	Psoas
3	chr11:33755200-33758600	Active TSS	Right Atrium	heart
4	chr11:33755400-33758400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:33755800-33758400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:33755800-33758400	Active TSS	Aorta	Aorta
7	chr11:33755800-33758400	Active TSS	Brain Cingulate Gyrus	brain
8	chr11:33755800-33758400	Active TSS	Esophagus	oesophagus
9	chr11:33755800-33758400	Active TSS	Left Ventricle	heart
10	chr11:33755800-33758400	Active TSS	NHDF-Ad	bronchial
11	chr11:33755800-33758400	Active TSS	NHLF	lung
12	chr11:33755800-33758600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:33756000-33758400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:33756000-33758400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:33756000-33758600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:33756200-33758400	Active TSS	Pancreas	Pancrea
17	chr11:33756200-33758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:33756200-33758600	Active TSS	Brain Hippocampus Middle	brain
19	chr11:33756400-33758400	Active TSS	Ovary	ovary
20	chr11:33756400-33758400	Active TSS	A549	lung
21	chr11:33756600-33758400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr11:33756600-33758400	Active TSS	Brain Angular Gyrus	brain
23	chr11:33756600-33758400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:33756600-33758400	Active TSS	Fetal Kidney	kidney
25	chr11:33756600-33758400	Active TSS	Thymus	Thymus
26	chr11:33756600-33758600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:33756800-33758400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:33756800-33758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:33756800-33758400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:33756800-33758400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:33756800-33758400	Active TSS	Brain Anterior Caudate	brain
32	chr11:33756800-33758400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:33756800-33758400	Active TSS	Colon Smooth Muscle	Colon
34	chr11:33756800-33758400	Active TSS	Fetal Heart	heart
35	chr11:33756800-33758400	Active TSS	Rectal Smooth Muscle	rectum
36	chr11:33756800-33758400	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr11:33756800-33758400	Active TSS	Hela-S3	cervix
38	chr11:33756800-33758600	Bivalent/Poised TSS	HepG2	liver
39	chr11:33756800-33759000	Active TSS	Brain Substantia Nigra	brain
40	chr11:33757000-33758400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr11:33757000-33758400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:33757000-33758400	Active TSS	Liver	Liver
43	chr11:33757000-33758400	Active TSS	Fetal Lung	lung
44	chr11:33757000-33758400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr11:33757000-33758400	Active TSS	K562	blood
46	chr11:33757000-33758600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:33757000-33758600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:33757000-33758800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr11:33757000-33758800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:33757200-33758400	Active TSS	HUES6 Cell Line	embryonic stem cell

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