Variant report

Variant	rs1785623
Chromosome Location	chr11:66118676-66118677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:66118323-66119159	HepG2	liver:	n/a	n/a
2	SP1	chr11:66118556-66119260	HepG2	liver:	n/a	n/a
3	HNF4A	chr11:66118608-66119172	HepG2	liver:	n/a	chr11:66118902-66118917
4	MAX	chr11:66118609-66119180	HepG2	liver:	n/a	n/a
5	HEY1	chr11:66118593-66119155	HepG2	liver:	n/a	n/a
6	HNF4G	chr11:66118615-66119194	HepG2	liver:	n/a	chr11:66118903-66118918
7	HDAC2	chr11:66118593-66119086	HepG2	liver:	n/a	n/a
8	HNF4G	chr11:66118664-66119137	HepG2	liver:	n/a	chr11:66118903-66118918
9	NFIC	chr11:66118420-66119255	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:66118537-66119235	HepG2	liver:	n/a	n/a
11	GATA1	chr11:66118660-66119280	PBDE	blood:	n/a	n/a
12	ARID3A	chr11:66118432-66119091	HepG2	liver:	n/a	n/a
13	EP300	chr11:66118646-66119017	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:66118536-66119195	HepG2	liver:	n/a	n/a
15	HEY1	chr11:66118580-66119164	HepG2	liver:	n/a	n/a
16	HDAC2	chr11:66118589-66119064	HepG2	liver:	n/a	n/a
17	NFIC	chr11:66118574-66119152	HepG2	liver:	n/a	n/a
18	MYBL2	chr11:66118481-66119280	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:66118538-66119122	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:66118293-66118679	HepG2	liver:	n/a	n/a
21	MYBL2	chr11:66118450-66119293	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:66118658-66119024	HepG2	liver:	n/a	n/a
23	HNF4A	chr11:66118660-66119168	HepG2	liver:	n/a	chr11:66118902-66118917
24	FOXA1	chr11:66118659-66119193	HepG2	liver:	n/a	n/a
25	MBD4	chr11:66118554-66119199	HepG2	liver:	n/a	n/a
26	EP300	chr11:66118529-66119190	HepG2	liver:	n/a	n/a
27	TBP	chr11:66118660-66119060	HepG2	liver:	n/a	n/a
28	JUND	chr11:66118587-66119151	HepG2	liver:	n/a	n/a
29	FOXA1	chr11:66118603-66119059	HepG2	liver:	n/a	n/a
30	CEBPB	chr11:66118621-66118952	HepG2	liver:	n/a	n/a
31	FOXA2	chr11:66118629-66119061	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:66118582-66119135	HepG2	liver:	n/a	n/a
33	EP300	chr11:66118592-66119081	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66118434..66120401-chr11:66124357..66127187,2	MCF-7	breast:
2	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
3	chr11:66115553..66117305-chr11:66118216..66119858,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-867G23.8.1-3	chr11:66118668-66118845	NONHSAT022292

No data

Variant related genes	Relation type
B3GNT1	TF binding region
ENSG00000255468	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1039593	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10750785	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190626	1.00[TSI][hapmap]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	0.93[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1320675	0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1344410	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2292123	1.00[ASW][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3016763	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	0.93[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3867130	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930359	0.93[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs6421643	1.00[TSI][hapmap]
rs7104297	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7111197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125100	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7130857	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]
rs948359	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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 lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv897784	chr11:66111901-66123043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv897785	chr11:66112574-66123043	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66115800-66123400	Weak transcription	Ovary	ovary
2	chr11:66116000-66121200	Weak transcription	Primary T cells from cord blood	blood
3	chr11:66116000-66121200	Weak transcription	Thymus	Thymus
4	chr11:66116000-66127200	Weak transcription	Gastric	stomach
5	chr11:66116000-66129400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:66116000-66129600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:66116000-66129600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:66116000-66134400	Weak transcription	Left Ventricle	heart
9	chr11:66116000-66135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:66116000-66137200	Weak transcription	Fetal Kidney	kidney
11	chr11:66116000-66138400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:66116000-66138400	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:66116000-66138400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:66116000-66138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:66116200-66120800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:66116200-66121000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:66116200-66121200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:66116200-66121200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:66116200-66121200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:66116200-66121400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:66116200-66121800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:66116200-66123400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:66116200-66127000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:66116200-66128800	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:66116200-66128800	Weak transcription	Fetal Thymus	thymus
26	chr11:66116200-66129200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:66116200-66129200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:66116200-66129600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:66116200-66129600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:66116200-66129800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:66116200-66130000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:66116200-66130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:66116200-66137000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:66116200-66137400	Weak transcription	Brain Angular Gyrus	brain
35	chr11:66116200-66137400	Weak transcription	Brain Anterior Caudate	brain
36	chr11:66116200-66137800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:66116200-66138400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:66116400-66127800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:66116400-66128000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:66116600-66121000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:66116600-66129000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:66116600-66129400	Weak transcription	Fetal Lung	lung
43	chr11:66116800-66121200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:66116800-66129200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:66116800-66130600	Weak transcription	Adipose Nuclei	Adipose
46	chr11:66116800-66137200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:66116800-66137400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:66116800-66138400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:66117000-66121200	Weak transcription	Brain Germinal Matrix	brain
50	chr11:66117000-66121200	Weak transcription	Fetal Brain Female	brain

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