Variant report

Variant	rs11607338
Chromosome Location	chr11:71291789-71291790
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	CTCF	chr11:71291680-71291830	NHEK	skin:	n/a	n/a
2	CTCF	chr11:71291720-71291870	NHDF-neo	bronchial:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
3	CTCF	chr11:71291640-71291790	GM12868	blood:	n/a	n/a
4	CTCF	chr11:71291780-71291930	SK-N-SH_RA	brain:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
5	CTCF	chr11:71290782-71292087	SK-N-SH	brain:	n/a	chr11:71291299-71291320 chr11:71291300-71291313 chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291298-71291314 chr11:71291853-71291866 chr11:71291302-71291310 chr11:71291297-71291315
6	CTCF	chr11:71291680-71291830	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr11:71291680-71291830	HCT-116	colon:	n/a	n/a
8	CTCF	chr11:71291013-71292034	HCT-116	colon:	n/a	chr11:71291299-71291320 chr11:71291300-71291313 chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291298-71291314 chr11:71291853-71291866 chr11:71291302-71291310 chr11:71291297-71291315
9	RAD21	chr11:71291659-71292002	MCF-7	breast:	n/a	chr11:71291849-71291868
10	CTCF	chr11:71291741-71291932	ProgFib	skin:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
11	CTCF	chr11:71291598-71291944	GM13977	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
12	CTCF	chr11:71291680-71291830	GM12874	blood:	n/a	n/a
13	CTCF	chr11:71291760-71291910	GM12878	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
14	CTCF	chr11:71291703-71291989	LNCaP	prostate:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
15	CTCF	chr11:71291737-71291987	HepG2	liver:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
16	CTCF	chr11:71291680-71291830	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr11:71291786-71291931	GM10266	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
18	CTCF	chr11:71291721-71291988	K562	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
19	CTCF	chr11:71291700-71291850	RPTEC	kidney:	n/a	n/a
20	CTCF	chr11:71291634-71292013	K562	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
21	CTCF	chr11:71291747-71291978	K562	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
22	CTCF	chr11:71291774-71291922	Fibrobl	skin:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
23	CTCF	chr11:71291680-71291830	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr11:71291700-71291850	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr11:71291732-71291986	GM12878	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
26	CTCF	chr11:71291660-71291810	GM12864	blood:	n/a	n/a
27	RAD21	chr11:71291743-71291943	HepG2	liver:	n/a	chr11:71291849-71291868
28	CTCF	chr11:71291680-71291830	AG10803	skin:	n/a	n/a
29	CTCF	chr11:71291752-71291890	MCF-7	breast:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
30	CTCF	chr11:71291680-71291830	HAc	cerebellar:	n/a	n/a
31	CTCF	chr11:71291704-71291997	LNCaP	prostate:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
32	CTCF	chr11:71291759-71291898	GM19238	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
33	RAD21	chr11:71291715-71291922	SK-N-SH_RA	brain:	n/a	chr11:71291849-71291868
34	CTCF	chr11:71291680-71291830	Hela-S3	cervix:	n/a	n/a
35	RAD21	chr11:71291641-71291993	HepG2	liver:	n/a	chr11:71291849-71291868
36	CTCF	chr11:71291750-71291936	A549	lung:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
37	RAD21	chr11:71291633-71292092	SK-N-SH	brain:	n/a	chr11:71291849-71291868
38	CTCF	chr11:71291758-71291950	Medullo	brain:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
39	CTCF	chr11:71291680-71291830	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr11:71291680-71291830	WI-38	lung:	n/a	n/a
41	CTCF	chr11:71291680-71291830	HCFaa	heart:	n/a	n/a
42	CTCF	chr11:71291780-71291930	NHEK	skin:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
43	CTCF	chr11:71291740-71291890	GM12874	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
44	CTCF	chr11:71291778-71291981	Pancreas_OC	pancreas:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
45	CTCF	chr11:71291660-71291810	AG09319	gingival:	n/a	n/a
46	RAD21	chr11:71291748-71291904	Hela-S3	cervix:	n/a	chr11:71291849-71291868
47	CTCF	chr11:71291700-71291850	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:71291748-71291904	GM12892	blood:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
49	CTCF	chr11:71291744-71291951	MCF-7	breast:	n/a	chr11:71291846-71291867 chr11:71291851-71291869 chr11:71291853-71291866
50	RAD21	chr11:71291629-71291934	H1-hESC	embryonic stem cell:	n/a	chr11:71291849-71291868

No.	Distal block	Cell Line	Cell type
1	chr11:71163473..71165824-chr11:71289975..71292795,2	MCF-7	breast:
2	chr11:71278406..71279386-chr11:71291430..71292089,2	MCF-7	breast:
3	chr11:71278394..71279845-chr11:71290961..71292008,7	MCF-7	breast:
4	chr11:71185954..71187783-chr11:71290414..71293087,2	MCF-7	breast:
5	chr11:71158649..71161220-chr11:71291218..71293129,2	MCF-7	breast:

Variant related genes	Relation type
KRTAP5-14P	TF binding region
ENSG00000172893	Chromatin interaction
ENSG00000254682	Chromatin interaction
ENSG00000172890	Chromatin interaction
ENSG00000248903	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10751118	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10751119	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898347	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12421579	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015464	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv825988	chr11:71277262-71294289	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv975851	chr11:71278888-71295301	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71290400-71292000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr11:71290400-71293400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:71290400-71293600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:71290600-71291800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr11:71290800-71291800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:71290800-71292000	Enhancers	Adipose Nuclei	Adipose
7	chr11:71290800-71292000	Enhancers	GM12878-XiMat	blood
8	chr11:71291000-71291800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:71291000-71293000	Enhancers	HepG2	liver
10	chr11:71291200-71291800	Enhancers	Brain Cingulate Gyrus	brain
11	chr11:71291200-71291800	Enhancers	Fetal Intestine Large	intestine
12	chr11:71291200-71292600	Weak transcription	Pancreas	Pancrea
13	chr11:71291200-71293000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:71291400-71291800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:71291400-71291800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:71291400-71291800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:71291400-71291800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr11:71291400-71291800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr11:71291400-71291800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:71291400-71291800	Enhancers	Hela-S3	cervix
21	chr11:71291400-71295200	Weak transcription	Right Atrium	heart
22	chr11:71291600-71291800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr11:71291600-71291800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:71291600-71291800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:71291600-71291800	Enhancers	Colonic Mucosa	Colon
26	chr11:71291600-71291800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr11:71291600-71291800	Enhancers	Gastric	stomach
28	chr11:71291600-71291800	Enhancers	A549	lung
29	chr11:71291600-71291800	Bivalent Enhancer	K562	blood
30	chr11:71291600-71292400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr11:71291600-71293800	Enhancers	Spleen	Spleen

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