Variant report

Variant	rs1190630
Chromosome Location	chr11:66097735-66097736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66097375-66097911	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:66097428-66097937	HUVEC	blood vessel:	n/a	n/a
3	CEBPB	chr11:66097639-66097954	K562	blood:	n/a	n/a
4	POLR2A	chr11:66097213-66100151	U87	brain:	n/a	n/a
5	JUND	chr11:66097708-66097960	K562	blood:	n/a	n/a
6	POLR2A	chr11:66095377-66097940	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:66097337-66097964	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:66097614-66097911	HCT-116	colon:	n/a	n/a
9	POLR2A	chr11:66097435-66097971	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:66097536-66097858	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:66097282-66097828	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:66097361-66097939	IMR90	lung:	n/a	n/a
13	RCOR1	chr11:66097648-66098075	K562	blood:	n/a	n/a
14	POLR2A	chr11:66097642-66097774	ProgFib	skin:	n/a	n/a
15	POLR2A	chr11:66097641-66098174	K562	blood:	n/a	n/a
16	POLR2A	chr11:66097603-66097762	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:66097286-66099531	U87	brain:	n/a	n/a
18	POLR2A	chr11:66097282-66098053	Hela-S3	cervix:	n/a	n/a
19	MAX	chr11:66097703-66098042	K562	blood:	n/a	n/a
20	POLR2A	chr11:66095435-66099531	U87	brain:	n/a	n/a
21	POLR2A	chr11:66097325-66097988	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:66097281-66098958	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr11:66094133-66099963	U87	brain:	n/a	n/a
24	CEBPB	chr11:66097607-66097941	K562	blood:	n/a	n/a
25	EP300	chr11:66097677-66097965	K562	blood:	n/a	n/a
26	HCFC1	chr11:66097733-66097791	K562	blood:	n/a	n/a
27	POLR2A	chr11:66094758-66099273	MCF10A-Er-Src	breast:	n/a	n/a
28	ELF1	chr11:66097665-66098012	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65989902..65990804-chr11:66097338..66097940,2	K562	blood:
2	chr11:66076960..66082217-chr11:66092441..66098354,9	K562	blood:
3	chr11:66044842..66048035-chr11:66092705..66097892,5	K562	blood:
4	chr11:66047213..66049788-chr11:66097470..66100241,3	K562	blood:
5	chr11:66096036..66100735-chr11:66109250..66113337,6	K562	blood:
6	chr11:66096831..66099072-chr11:66133272..66136044,2	MCF-7	breast:
7	chr11:66054084..66058324-chr11:66093357..66097768,5	K562	blood:
8	chr11:66078330..66081708-chr11:66094461..66098902,4	MCF-7	breast:
9	chr11:66097476..66098221-chr11:66111385..66111891,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254756	TF binding region
ENSG00000254452	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174871	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1203483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281049	1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784035	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1785623	1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[EUR][1000 genomes]
rs3867130	1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	1.00[EUR][1000 genomes]
rs4930359	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	0.83[AFR][1000 genomes]
rs7104297	1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7125100	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]
rs948359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66091800-66097800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:66093200-66102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:66094400-66102800	Weak transcription	Psoas Muscle	Psoas
5	chr11:66095000-66102800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:66095800-66100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:66096400-66098000	Enhancers	NHDF-Ad	bronchial
8	chr11:66096400-66098400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:66096400-66099000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66096400-66099000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:66096400-66099000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:66096400-66099000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:66096400-66099000	Weak transcription	HMEC	breast
14	chr11:66096400-66099200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:66096400-66099200	Weak transcription	Brain Anterior Caudate	brain
16	chr11:66096400-66099200	Weak transcription	Esophagus	oesophagus
17	chr11:66096400-66099200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:66096400-66099200	Weak transcription	Gastric	stomach
19	chr11:66096400-66099200	Weak transcription	Lung	lung
20	chr11:66096400-66099400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:66096400-66099400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:66096400-66099600	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:66096400-66099600	Weak transcription	Ovary	ovary
24	chr11:66096400-66099600	Weak transcription	Right Ventricle	heart
25	chr11:66096400-66099600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:66096400-66099800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:66096400-66099800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:66096400-66099800	Weak transcription	Colonic Mucosa	Colon
29	chr11:66096400-66099800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:66096400-66100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:66096400-66100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:66096400-66100200	Weak transcription	Pancreas	Pancrea
33	chr11:66096400-66101000	Weak transcription	Brain Angular Gyrus	brain
34	chr11:66096400-66101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:66096400-66102400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:66096400-66102400	Weak transcription	HSMM	muscle
37	chr11:66096400-66102600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:66096400-66102600	Weak transcription	HSMMtube	muscle
39	chr11:66096400-66102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:66096400-66102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:66096400-66102800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:66096400-66102800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:66096400-66102800	Weak transcription	Left Ventricle	heart
44	chr11:66096400-66102800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:66096400-66102800	Weak transcription	Right Atrium	heart
46	chr11:66096400-66103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr11:66096400-66103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:66096400-66104400	Weak transcription	Dnd41	blood
49	chr11:66096600-66098000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:66096600-66098000	Enhancers	Hela-S3	cervix

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