Variant report

Variant	rs3016763
Chromosome Location	chr11:66103046-66103047
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	POLR2A	chr11:66102843-66104643	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:66102818-66104682	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:66102997-66103673	HUVEC	blood vessel:	n/a	n/a
4	HCFC1	chr11:66102619-66104575	Hela-S3	cervix:	n/a	n/a
5	MAX	chr11:66102800-66104675	HepG2	liver:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
6	POLR2A	chr11:66103017-66104311	HUVEC	blood vessel:	n/a	n/a
7	MXI1	chr11:66102626-66105682	SK-N-SH	brain:	n/a	chr11:66104331-66104346 chr11:66104355-66104370 chr11:66104353-66104368
8	POLR2A	chr11:66101875-66105316	IMR90	lung:	n/a	n/a
9	POLR2A	chr11:66103019-66103187	MCF-7	breast:	n/a	n/a
10	MAX	chr11:66102996-66104706	HepG2	liver:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
11	POLR2A	chr11:66102730-66104638	U87	brain:	n/a	n/a
12	RCOR1	chr11:66102726-66103232	Hela-S3	cervix:	n/a	n/a
13	TFAP2A	chr11:66102778-66104433	Hela-S3	cervix:	n/a	chr11:66104294-66104303 chr11:66104246-66104261
14	SMC3	chr11:66103012-66104493	Hela-S3	cervix:	n/a	chr11:66103755-66103765
15	POLR2A	chr11:66102914-66104394	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:66102998-66104716	A549	lung:	n/a	chr11:66104268-66104289 chr11:66104274-66104290 chr11:66104421-66104431 chr11:66104273-66104291
17	MAX	chr11:66102614-66104680	NB4	blood:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
18	SMARCC1	chr11:66102888-66104498	Hela-S3	cervix:	n/a	chr11:66104294-66104303
19	MYC	chr11:66103022-66103084	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:66102980-66103130	HCM	heart:	n/a	n/a
21	SPI1	chr11:66102624-66103427	HL-60	blood:	n/a	chr11:66103159-66103172
22	MAX	chr11:66103017-66103694	H1-hESC	embryonic stem cell:	n/a	n/a
23	SMARCB1	chr11:66102913-66104563	Hela-S3	cervix:	n/a	chr11:66104294-66104303
24	POLR2A	chr11:66102751-66104628	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:66102937-66104702	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr11:66102615-66104833	HL-60	blood:	n/a	n/a
27	MYC	chr11:66102625-66104647	NB4	blood:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
28	POLR2A	chr11:66103018-66104540	Hela-S3	cervix:	n/a	n/a
29	E2F4	chr11:66103014-66103373	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:66102592-66104760	U87	brain:	n/a	n/a
31	POLR2A	chr11:66102942-66104585	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr11:66102965-66103514	SK-N-SH	brain:	n/a	n/a
33	ZNF143	chr11:66102732-66103210	Hela-S3	cervix:	n/a	n/a
34	USF2	chr11:66102951-66103241	Hela-S3	cervix:	n/a	n/a
35	REST	chr11:66102790-66103316	A549	lung:	n/a	chr11:66102985-66103003
36	CHD1	chr11:66102182-66106109	IMR90	lung:	n/a	n/a
37	MAX	chr11:66103046-66104659	A549	lung:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
38	POLR2A	chr11:66102778-66104803	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr11:66103033-66103370	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:66103044-66104650	HepG2	liver:	n/a	n/a
41	ZKSCAN1	chr11:66102971-66103439	Hela-S3	cervix:	n/a	n/a
42	MAX	chr11:66103028-66104604	ECC-1	luminal epithelium:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
43	TAF1	chr11:66102920-66103311	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr11:66102235-66106377	IMR90	lung:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66106166-66106175 chr11:66106165-66106176 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
45	POLR2A	chr11:66102952-66104255	Gliobla	brain:	n/a	n/a
46	RCOR1	chr11:66102436-66106057	IMR90	lung:	n/a	n/a
47	MAX	chr11:66102986-66104770	SK-N-SH	brain:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
48	POLR2A	chr11:66102663-66104552	NB4	blood:	n/a	n/a
49	RAD21	chr11:66102956-66105643	SK-N-SH	brain:	n/a	chr11:66104271-66104290 chr11:66104451-66104463
50	E2F6	chr11:66102953-66104480	A549	lung:	n/a	chr11:66104154-66104166 chr11:66103010-66103022

No.	Distal block	Cell Line	Cell type
1	chr11:66045260..66048745-chr11:66100560..66104011,3	K562	blood:
2	chr11:66102771..66103613-chr21:38639520..38640099,2	Hela-S3	cervix:
3	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
4	chr11:66053447..66056540-chr11:66100445..66105768,7	MCF-7	breast:
5	chr11:66102581..66106910-chr11:66137391..66141246,5	MCF-7	breast:
6	chr11:66083086..66084913-chr11:66102353..66104167,3	MCF-7	breast:
7	chr11:66102037..66105089-chr11:66137738..66140850,8	MCF-7	breast:
8	chr11:66099391..66103232-chr11:66136865..66139271,3	K562	blood:
9	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:
10	chr11:66055597..66057691-chr11:66102656..66105498,2	K562	blood:

Variant related genes	Relation type
RIN1	TF binding region
ENSG00000245156	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000272948	Chromatin interaction
ENSG00000157538	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	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[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1344410	0.90[AFR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1785624	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs2292123	0.90[AFR][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	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4930359	0.87[AFR][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]
rs7104297	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7111197	0.85[AFR][1000 genomes]
rs7125100	1.00[EUR][1000 genomes]
rs7130857	0.87[AFR][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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	esv1813137	chr11:66098322-66106725	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
9	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	esv1850142	chr11:66099494-66105817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66096400-66104400	Weak transcription	Dnd41	blood
3	chr11:66098000-66103400	Weak transcription	Aorta	Aorta
4	chr11:66098400-66108800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:66099000-66103200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:66101000-66103200	Transcr. at gene 5' and 3'	NHLF	lung
7	chr11:66101200-66103200	Transcr. at gene 5' and 3'	NHEK	skin
8	chr11:66101800-66103200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:66102000-66103200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:66102200-66103200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:66102200-66103200	Flanking Active TSS	Hela-S3	cervix
12	chr11:66102200-66103400	Flanking Active TSS	HMEC	breast
13	chr11:66102200-66103600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:66102200-66105000	Flanking Active TSS	NH-A	brain
15	chr11:66102400-66103200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:66102400-66103200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:66102400-66103200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr11:66102400-66103200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:66102400-66103400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr11:66102400-66103600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:66102400-66104400	Enhancers	Primary B cells from cord blood	blood
22	chr11:66102400-66104400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:66102400-66104600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:66102600-66103200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr11:66102600-66103200	Flanking Active TSS	A549	lung
26	chr11:66102600-66103400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:66102600-66103400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:66102600-66103400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:66102600-66103400	Flanking Active TSS	HepG2	liver
30	chr11:66102600-66103800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:66102600-66104200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:66102600-66104200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:66102600-66104200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:66102600-66104200	Enhancers	GM12878-XiMat	blood
35	chr11:66102600-66104600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr11:66102800-66103200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:66102800-66103200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:66102800-66103200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:66102800-66103200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:66102800-66103200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr11:66102800-66103200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr11:66102800-66103200	Flanking Active TSS	Lung	lung
43	chr11:66102800-66103200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr11:66102800-66103200	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr11:66102800-66103200	Enhancers	Right Atrium	heart
46	chr11:66102800-66103200	Flanking Active TSS	Stomach Mucosa	stomach
47	chr11:66102800-66103200	Flanking Active TSS	HSMMtube	muscle
48	chr11:66102800-66103400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:66102800-66103400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr11:66102800-66103400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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