Variant report

Variant	rs372483354
Chromosome Location	chr11:64781067-64781068
allele	C/G
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	chr11:64780995-64781265	GM20000	blood:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781137-64781153 chr11:64781139-64781148
2	YY1	chr11:64780953-64782379	K562	blood:	n/a	chr11:64781921-64781932
3	RAD21	chr11:64780904-64782122	ECC-1	luminal epithelium:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153 chr11:64782061-64782073 chr11:64782027-64782041
4	POLR2A	chr11:64780882-64782355	K562	blood:	n/a	n/a
5	CTCF	chr11:64781020-64781170	NHEK	skin:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781137-64781153 chr11:64781139-64781148
6	RELA	chr11:64780968-64781964	GM19193	blood:	n/a	n/a
7	TBP	chr11:64780854-64781822	GM12878	blood:	n/a	n/a
8	FOXA2	chr11:64780669-64781075	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:64780662-64782497	K562	blood:	n/a	n/a
10	RCOR1	chr11:64780965-64782576	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr11:64780986-64781984	A549	lung:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
12	HCFC1	chr11:64780966-64782038	K562	blood:	n/a	n/a
13	FOXM1	chr11:64780872-64782031	GM12878	blood:	n/a	n/a
14	MAZ	chr11:64780888-64782261	GM12878	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
15	SIN3AK20	chr11:64780762-64781410	A549	lung:	n/a	n/a
16	CTCF	chr11:64781060-64781210	AG09309	skin:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781137-64781153 chr11:64781139-64781148
17	CREB1	chr11:64780928-64782387	A549	lung:	n/a	n/a
18	SIN3AK20	chr11:64780727-64782536	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:64781060-64781210	HAc	cerebellar:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781137-64781153 chr11:64781139-64781148
20	IRF1	chr11:64780971-64781936	K562	blood:	n/a	n/a
21	CBX3	chr11:64780768-64782686	K562	blood:	n/a	n/a
22	CTCF	chr11:64780980-64781130	A549	lung:	n/a	n/a
23	CTCF	chr11:64781000-64781150	HCT-116	colon:	n/a	chr11:64781139-64781148
24	POLR2A	chr11:64780844-64782318	GM19099	blood:	n/a	n/a
25	ARID3A	chr11:64780988-64781549	K562	blood:	n/a	n/a
26	TBL1XR1	chr11:64780935-64782262	K562	blood:	n/a	n/a
27	PAX5	chr11:64780902-64781638	GM12878	blood:	n/a	n/a
28	CTCF	chr11:64780975-64782134	GM12878	blood:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781804-64781822 chr11:64781658-64781671 chr11:64781137-64781153 chr11:64781896-64781909 chr11:64782028-64782041 chr11:64781805-64781821 chr11:64781139-64781148 chr11:64781655-64781673
29	MAX	chr11:64780974-64782393	K562	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
30	RAD21	chr11:64780959-64781955	HepG2	liver:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
31	RAD21	chr11:64780883-64781952	H1-hESC	embryonic stem cell:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
32	BCL11A	chr11:64781065-64781485	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:64780828-64782667	PFSK-1	brain:	n/a	n/a
34	E2F6	chr11:64780882-64782430	A549	lung:	n/a	chr11:64782105-64782115 chr11:64781471-64781481 chr11:64781576-64781585
35	RFX5	chr11:64780888-64782207	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr11:64781033-64781522	A549	lung:	n/a	n/a
37	TCF7L2	chr11:64780995-64782364	HCT-116	colon:	n/a	n/a
38	TAF7	chr11:64781004-64782066	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr11:64780889-64782427	K562	blood:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
40	RAD21	chr11:64780821-64782021	HepG2	liver:	n/a	chr11:64781306-64781315 chr11:64781142-64781152 chr11:64781137-64781156 chr11:64781142-64781154 chr11:64781140-64781153
41	CTCF	chr11:64781040-64781190	BE2_C	brain:	n/a	chr11:64781139-64781152 chr11:64781136-64781154 chr11:64781138-64781159 chr11:64781137-64781153 chr11:64781139-64781148
42	ZEB1	chr11:64780982-64781977	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:64780959-64782346	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:64781021-64782343	HepG2	liver:	n/a	n/a
45	MAX	chr11:64780844-64782542	A549	lung:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
46	EGR1	chr11:64780907-64782419	K562	blood:	n/a	chr11:64781065-64781075 chr11:64781062-64781075
47	POLR2A	chr11:64780865-64782391	HUVEC	blood vessel:	n/a	n/a
48	EP300	chr11:64780980-64781809	GM12878	blood:	n/a	n/a
49	MAX	chr11:64780900-64782359	SK-N-SH	brain:	n/a	chr11:64781434-64781444 chr11:64782115-64782125
50	POLR2A	chr11:64781010-64782381	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
2	chr11:64779777..64783339-chr11:64843637..64848045,5	K562	blood:
3	chr11:64780551..64781718-chr11:64879936..64880686,4	K562	blood:
4	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
5	chr11:64779932..64783276-chr11:64862331..64864399,5	MCF-7	breast:
6	chr11:64780179..64786029-chr11:64807067..64810211,7	MCF-7	breast:
7	chr11:64780520..64784503-chr11:64834796..64838390,5	MCF-7	breast:
8	chr11:64780460..64784208-chr11:64862018..64864261,3	K562	blood:
9	chr11:64660891..64664747-chr11:64780644..64783500,5	K562	blood:
10	chr11:64739428..64743212-chr11:64780553..64782608,3	K562	blood:
11	chr11:64642873..64648975-chr11:64779425..64783727,9	MCF-7	breast:
12	chr11:64663470..64664241-chr11:64780763..64781434,2	K562	blood:
13	chr11:64779929..64781451-chr11:64813261..64815030,2	MCF-7	breast:
14	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
15	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
16	chr11:64780338..64782626-chr11:64806994..64809935,3	K562	blood:
17	chr11:64778554..64781420-chr11:64816043..64818523,2	MCF-7	breast:
18	chr11:64781025..64781584-chr11:64845425..64846204,2	MCF-7	breast:
19	chr11:64663247..64665501-chr11:64780433..64782538,2	K562	blood:
20	chr11:64684657..64687217-chr11:64779880..64782895,3	K562	blood:
21	chr11:64780674..64781293-chr11:64845300..64846312,4	K562	blood:
22	chr11:64779637..64784611-chr11:64849890..64854060,9	K562	blood:
23	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
24	chr11:64779557..64781251-chr11:65271267..65273112,2	K562	blood:
25	chr11:64663591..64666697-chr11:64779404..64783379,5	MCF-7	breast:
26	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
27	chr11:64780038..64784183-chr11:64845056..64847666,6	K562	blood:
28	chr11:64779668..64784219-chr11:64849890..64854919,7	K562	blood:
29	chr11:64691687..64693802-chr11:64779659..64781433,2	K562	blood:
30	chr11:64780421..64782168-chr11:64953277..64956161,2	MCF-7	breast:
31	chr11:64780781..64781742-chr11:64884944..64885528,2	K562	blood:
32	chr11:64781031..64781807-chr19:1269220..1269874,2	HCT-116	colon:
33	chr11:64781063..64782155-chr11:64884745..64885349,3	MCF-7	breast:
34	chr11:64779662..64781456-chr11:64806960..64809857,2	K562	blood:
35	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
36	chr11:64779895..64782091-chr11:64887695..64889902,3	K562	blood:
37	chr11:64779689..64782801-chr11:64896069..64898995,3	MCF-7	breast:
38	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
39	chr11:64779401..64787584-chr11:64862745..64867550,9	MCF-7	breast:
40	chr11:64780841..64783611-chr11:64936959..64938535,2	K562	blood:
41	chr11:64766736..64768997-chr11:64779317..64781330,2	K562	blood:
42	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
43	chr11:64780648..64781149-chr11:64828725..64829287,2	MCF-7	breast:
44	chr11:64660429..64663235-chr11:64780866..64783681,3	MCF-7	breast:

Variant related genes	Relation type
ARL2	TF binding region
ENSG00000273003	TF binding region
ENSG00000254614	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000099622	Chromatin interaction
ENSG00000266123	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	esv3421449	chr11:64780801-64783349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64764800-64781200	Weak transcription	Right Atrium	heart
2	chr11:64780400-64781200	Flanking Active TSS	Dnd41	blood
3	chr11:64780400-64781400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:64780400-64781600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:64780400-64782200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:64780600-64781200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr11:64780600-64781200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:64780600-64781200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:64780600-64781200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:64780600-64781200	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr11:64780600-64781200	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr11:64780600-64781200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr11:64780600-64781200	Enhancers	HUVEC	blood vessel
14	chr11:64780600-64781200	Flanking Active TSS	K562	blood
15	chr11:64780600-64781200	Flanking Active TSS	NHEK	skin
16	chr11:64780600-64781400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr11:64780600-64781400	Flanking Active TSS	NH-A	brain
18	chr11:64780600-64781600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:64780600-64781600	Flanking Active TSS	Liver	Liver
20	chr11:64780600-64782400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:64780600-64782800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:64780600-64783000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:64780800-64781200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:64780800-64781200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:64780800-64781200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr11:64780800-64781200	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr11:64780800-64781200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:64780800-64781200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr11:64780800-64781200	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr11:64780800-64781200	Enhancers	Left Ventricle	heart
31	chr11:64780800-64781200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:64780800-64781400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr11:64780800-64781400	Enhancers	Fetal Heart	heart
34	chr11:64780800-64781400	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr11:64780800-64781400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr11:64780800-64781400	Flanking Active TSS	Fetal Thymus	thymus
37	chr11:64780800-64781600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr11:64780800-64781600	Flanking Active TSS	HSMM	muscle
39	chr11:64780800-64781800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr11:64780800-64782000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:64780800-64782000	Active TSS	Colonic Mucosa	Colon
42	chr11:64780800-64782200	Active TSS	Brain Germinal Matrix	brain
43	chr11:64780800-64782200	Active TSS	Thymus	Thymus
44	chr11:64780800-64782400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr11:64780800-64782400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:64780800-64782400	Active TSS	Psoas Muscle	Psoas
47	chr11:64780800-64782400	Active TSS	Spleen	Spleen
48	chr11:64780800-64782600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:64780800-64782600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:64780800-64782800	Active TSS	H9 Cell Line	embryonic stem cell

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