Variant report

Variant	rs831601
Chromosome Location	chr11:33758040-33758041
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	MAX	chr11:33757827-33758487	HepG2	liver:	n/a	n/a
2	RELA	chr11:33756704-33758335	GM12891	blood:	n/a	n/a
3	EP300	chr11:33758007-33758231	HepG2	liver:	n/a	chr11:33758011-33758027 chr11:33758065-33758081
4	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
5	NRF1	chr11:33757885-33758268	H1-hESC	embryonic stem cell:	n/a	chr11:33758070-33758081
6	CTCF	chr11:33757960-33758110	SK-N-SH_RA	brain:	n/a	n/a
7	MAX	chr11:33757848-33758233	K562	blood:	n/a	n/a
8	CTCF	chr11:33758014-33758118	Spleen_OC	spleen:	n/a	n/a
9	SMC3	chr11:33757797-33758193	K562	blood:	n/a	n/a
10	ZNF143	chr11:33757775-33758180	H1-hESC	embryonic stem cell:	n/a	chr11:33757850-33757860
11	CTCF	chr11:33757900-33758050	GM12868	blood:	n/a	n/a
12	MAZ	chr11:33757253-33759530	IMR90	lung:	n/a	chr11:33757825-33757835
13	MTA3	chr11:33756467-33758210	GM12878	blood:	n/a	n/a
14	EGR1	chr11:33757715-33758324	H1-hESC	embryonic stem cell:	n/a	chr11:33757969-33757991 chr11:33757974-33757987 chr11:33757971-33757985 chr11:33758109-33758122 chr11:33757974-33757987 chr11:33758110-33758119 chr11:33757835-33757845
15	USF2	chr11:33757945-33758109	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr11:33757668-33758651	A549	lung:	n/a	chr11:33757690-33757704
17	MXI1	chr11:33757944-33758142	H1-hESC	embryonic stem cell:	n/a	n/a
18	RUNX3	chr11:33756454-33758176	GM12878	blood:	n/a	n/a
19	TCF12	chr11:33757329-33758263	ECC-1	luminal epithelium:	n/a	chr11:33758078-33758085
20	MAX	chr11:33757695-33758656	SK-N-SH	brain:	n/a	chr11:33757825-33757835
21	TEAD4	chr11:33757409-33759628	K562	blood:	n/a	n/a
22	HEY1	chr11:33757709-33758432	HepG2	liver:	n/a	n/a
23	PML	chr11:33757681-33758305	MCF-7	breast:	n/a	n/a
24	TAF1	chr11:33757238-33758356	H1-hESC	embryonic stem cell:	n/a	n/a
25	PAX5	chr11:33757517-33758133	GM12892	blood:	n/a	chr11:33757530-33757539
26	REST	chr11:33757783-33758064	SK-N-SH	brain:	n/a	n/a
27	YY1	chr11:33757827-33758214	K562	blood:	n/a	chr11:33757930-33757939 chr11:33758007-33758021 chr11:33758070-33758081 chr11:33758014-33758025
28	POLR2A	chr11:33757427-33758598	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:33757534-33759812	PBDE	blood:	n/a	n/a
30	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
31	TBP	chr11:33757474-33758291	H1-hESC	embryonic stem cell:	n/a	n/a
32	ELF1	chr11:33757158-33758218	GM12878	blood:	n/a	chr11:33758015-33758027
33	E2F6	chr11:33757840-33758181	K562	blood:	n/a	n/a
34	HEY1	chr11:33757742-33758263	HepG2	liver:	n/a	n/a
35	TAL1	chr11:33757921-33758225	K562	blood:	n/a	n/a
36	POLR2A	chr11:33757611-33758397	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:33757323-33758143	GM12891	blood:	n/a	n/a
38	POLR2A	chr11:33757321-33758234	HL-60	blood:	n/a	n/a
39	E2F4	chr11:33757896-33758240	MCF10A-Er-Src	breast:	n/a	n/a
40	NRF1	chr11:33757970-33758224	HepG2	liver:	n/a	chr11:33758070-33758081
41	GTF2F1	chr11:33757849-33758112	K562	blood:	n/a	n/a
42	POLR2A	chr11:33757373-33758827	U87	brain:	n/a	n/a
43	ZBTB7A	chr11:33757421-33758125	K562	blood:	n/a	n/a
44	YY1	chr11:33757336-33758189	K562	blood:	n/a	chr11:33757930-33757939 chr11:33758007-33758021 chr11:33758070-33758081 chr11:33758014-33758025
45	TBP	chr11:33757832-33758219	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:33757647-33758207	K562	blood:	n/a	n/a
47	FOXA1	chr11:33757839-33758246	T-47D	breast:	n/a	n/a
48	GATA1	chr11:33757516-33759858	PBDE	blood:	n/a	chr11:33759815-33759825
49	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
50	POLR2A	chr11:33757158-33758296	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33757992-33758042	HCM	heart:	n/a
2	chr11:33757992-33758042	Jurkat	blood:	n/a
3	chr11:33757992-33758042	K562	blood:	n/a
4	chr11:33757992-33758042	HNPCEpiC	eye:	n/a
5	chr11:33757992-33758042	HEK293	kidney:	embryo
6	chr11:33757992-33758042	HRCEpiC	kidney:	n/a
7	chr11:33757992-33758042	HCPEpiC	choroid plexus:	n/a
8	chr11:33757992-33758042	PANC-1	pancreas:	n/a
9	chr11:33757992-33758042	CMK	blood:	n/a
10	chr11:33757992-33758042	SK-N-SH	brain:	n/a
11	chr11:33757992-33758042	ECC-1	luminal epithelium:	n/a
12	chr11:33757992-33758042	U87	brain:	n/a
13	chr11:33757992-33758042	NHBE	bronchial:	n/a
14	chr11:33757992-33758042	HAEpiC	amniotic membrane:	n/a
15	chr11:33757992-33758042	BJ	skin:	n/a
16	chr11:33757992-33758042	Hepatocyte	liver:	n/a
17	chr11:33757992-33758042	H1-hESC	embryonic stem cell:	embryo
18	chr11:33757992-33758042	HRE	kidney:	n/a
19	chr11:33757992-33758042	BE2_C	brain:	n/a
20	chr11:33757992-33758042	SK-N-SH_RA	brain:	n/a
21	chr11:33757992-33758042	SK-N-MC	brain:	n/a
22	chr11:33757992-33758042	PrEC	prostate:	n/a
23	chr11:33757992-33758042	HepG2	liver:	n/a
24	chr11:33757992-33758042	GM12891	blood:	n/a
25	chr11:33757992-33758042	IMR90	lung:	fetal
26	chr11:33757992-33758042	MCF10A-Er-Src	breast:	n/a
27	chr11:33757992-33758042	LNCaP	prostate:	n/a
28	chr11:33757992-33758042	HMEC	breast:	n/a
29	chr11:33757992-33758042	HL-60	blood:	n/a
30	chr11:33757992-33758042	A549	lung:	n/a
31	chr11:33757992-33758042	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:33757992-33758042	HRPEpiC	eye:	n/a
33	chr11:33757992-33758042	ProgFib	skin:	n/a
34	chr11:33757992-33758042	HIPEpiC	eye:	n/a
35	chr11:33757992-33758042	GM12878	blood:	n/a
36	chr11:33757992-33758042	GM12892	blood:	n/a
37	chr11:33757992-33758042	AG04450	lung:	fetal
38	chr11:33757992-33758042	SKMC	muscle:	n/a
39	chr11:33757992-33758042	AG09319	gingival:	n/a
40	chr11:33757992-33758042	AG09309	skin:	n/a
41	chr11:33757992-33758042	HUVEC	blood vessel:	n/a
42	chr11:33757992-33758042	AG10803	skin:	n/a
43	chr11:33757992-33758042	NH-A	brain:	n/a
44	chr11:33757992-33758042	T-47D	breast:	n/a
45	chr11:33757992-33758042	SAEC	small airway:	n/a
46	chr11:33757992-33758042	ovcar-3	ovarian:	n/a
47	chr11:33757992-33758042	GM19239	blood:	n/a
48	chr11:33757992-33758042	Hela-S3	cervix:	n/a
49	chr11:33757992-33758042	MCF-7	breast:	n/a
50	chr11:33757992-33758042	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33757533..33758403-chr3:64008748..64009625,2	MCF-7	breast:
2	chr11:33757585..33758318-chr20:30194790..30195725,2	Hela-S3	cervix:
3	chr11:33741862..33744483-chr11:33754300..33758090,5	K562	blood:
4	chr11:33757403..33758388-chr17:8286172..8286715,2	Hela-S3	cervix:
5	chr11:33757510..33758097-chr5:153570140..153570756,2	Hela-S3	cervix:
6	chr11:33181954..33184910-chr11:33755905..33758961,3	K562	blood:
7	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
8	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
9	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
10	chr11:33757628..33758397-chr7:64466569..64467103,2	Hela-S3	cervix:
11	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
12	chr11:33757603..33758362-chrX:47004560..47005124,2	Hela-S3	cervix:
13	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
14	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
15	chr11:33730241..33733771-chr11:33754827..33758431,3	K562	blood:
16	chr11:33757522..33758216-chr9:116172881..116173475,2	Hela-S3	cervix:
17	chr11:33757943..33758622-chr3:186500993..186501534,2	Hela-S3	cervix:
18	chr11:33757523..33758138-chr6:33281662..33282491,2	Hela-S3	cervix:
19	chr11:33757539..33758409-chr3:149095089..149095776,2	Hela-S3	cervix:
20	chr11:33757745..33758430-chr19:55919090..55919756,2	Hela-S3	cervix:
21	chr11:33757149..33758094-chr20:35917596..35918508,2	Hela-S3	cervix:
22	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
23	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
24	chr11:33757702..33758578-chr17:56708712..56709407,2	HCT-116	colon:
25	chr1:46215984..46216935-chr11:33757514..33758077,2	Hela-S3	cervix:
26	chr1:173836645..173837514-chr11:33757450..33758406,2	Hela-S3	cervix:
27	chr11:33757495..33758097-chr12:46766051..46766636,2	Hela-S3	cervix:
28	chr11:33756868..33759532-chr11:33768759..33770986,2	MCF-7	breast:
29	chr11:33757417..33758177-chr3:73159968..73160572,3	Hela-S3	cervix:
30	chr11:33757852..33758677-chr15:65596828..65597702,2	Hela-S3	cervix:
31	chr11:33757917..33758851-chr20:33680266..33680784,2	Hela-S3	cervix:
32	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:

Variant related genes	Relation type
CD59	TF binding region
CD59	CpG island
ENSG00000110429	Chromatin interaction
ENSG00000101363	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000161970	Chromatin interaction
ENSG00000255272	Chromatin interaction
ENSG00000240541	Chromatin interaction
ENSG00000169908	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000254508	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000152926	Chromatin interaction
ENSG00000156976	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000100991	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000247151	Chromatin interaction
ENSG00000213462	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000164574	Chromatin interaction
ENSG00000263809	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000264395	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1402956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1522088	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1632527	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16924726	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2177123	0.83[AMR][1000 genomes]
rs2231453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421209	0.86[AMR][1000 genomes]
rs2686246	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs704700	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs831593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs831597	0.81[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs831598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831619	0.90[JPT][hapmap]
rs831623	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831626	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs831628	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs831637	0.90[JPT][hapmap]

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	chr11:33755400-33758200	Active TSS	Lung	lung
5	chr11:33755400-33758400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr11:33755600-33758200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:33755800-33758200	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:33755800-33758200	Active TSS	HUVEC	blood vessel
9	chr11:33755800-33758400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:33755800-33758400	Active TSS	Aorta	Aorta
11	chr11:33755800-33758400	Active TSS	Brain Cingulate Gyrus	brain
12	chr11:33755800-33758400	Active TSS	Esophagus	oesophagus
13	chr11:33755800-33758400	Active TSS	Left Ventricle	heart
14	chr11:33755800-33758400	Active TSS	NHDF-Ad	bronchial
15	chr11:33755800-33758400	Active TSS	NHLF	lung
16	chr11:33755800-33758600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:33756000-33758200	Active TSS	Fetal Stomach	stomach
18	chr11:33756000-33758200	Active TSS	Gastric	stomach
19	chr11:33756000-33758400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr11:33756000-33758400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:33756000-33758600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:33756200-33758400	Active TSS	Pancreas	Pancrea
23	chr11:33756200-33758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:33756200-33758600	Active TSS	Brain Hippocampus Middle	brain
25	chr11:33756400-33758400	Active TSS	Ovary	ovary
26	chr11:33756400-33758400	Active TSS	A549	lung
27	chr11:33756600-33758400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:33756600-33758400	Active TSS	Brain Angular Gyrus	brain
29	chr11:33756600-33758400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:33756600-33758400	Active TSS	Fetal Kidney	kidney
31	chr11:33756600-33758400	Active TSS	Thymus	Thymus
32	chr11:33756600-33758600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:33756800-33758200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:33756800-33758200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:33756800-33758200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:33756800-33758200	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:33756800-33758200	Active TSS	Fetal Intestine Large	intestine
38	chr11:33756800-33758200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:33756800-33758200	Active TSS	NH-A	brain
40	chr11:33756800-33758200	Active TSS	Osteobl	bone
41	chr11:33756800-33758400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:33756800-33758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:33756800-33758400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:33756800-33758400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:33756800-33758400	Active TSS	Brain Anterior Caudate	brain
46	chr11:33756800-33758400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:33756800-33758400	Active TSS	Colon Smooth Muscle	Colon
48	chr11:33756800-33758400	Active TSS	Fetal Heart	heart
49	chr11:33756800-33758400	Active TSS	Rectal Smooth Muscle	rectum
50	chr11:33756800-33758400	Active TSS	Sigmoid Colon	Sigmoid Colon

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