Variant report

Variant	rs374672993
Chromosome Location	chr11:66045600-66045601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66045323-66045831	A549	lung:	n/a	n/a
2	POLR2A	chr11:66044832-66045740	K562	blood:	n/a	n/a
3	POLR2A	chr11:66044872-66045686	GM12892	blood:	n/a	n/a
4	EGR1	chr11:66045536-66045721	GM12878	blood:	n/a	chr11:66045628-66045642
5	ZBTB7A	chr11:66045334-66045983	K562	blood:	n/a	n/a
6	CCNT2	chr11:66045191-66045975	K562	blood:	n/a	chr11:66045546-66045555
7	POLR2A	chr11:66044331-66045670	GM12891	blood:	n/a	n/a
8	PML	chr11:66044910-66045678	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:66045102-66045967	GM18951	blood:	n/a	n/a
10	ELF1	chr11:66045033-66045842	GM12878	blood:	n/a	chr11:66045562-66045574
11	MAX	chr11:66045034-66045869	HepG2	liver:	n/a	n/a
12	CEBPD	chr11:66045265-66045671	HepG2	liver:	n/a	n/a
13	MAX	chr11:66045550-66045709	K562	blood:	n/a	n/a
14	MAZ	chr11:66045290-66045779	K562	blood:	n/a	n/a
15	POLR2A	chr11:66045037-66045991	A549	lung:	n/a	n/a
16	EGR1	chr11:66045515-66045700	K562	blood:	n/a	chr11:66045628-66045642
17	POLR2A	chr11:66044974-66045811	K562	blood:	n/a	n/a
18	POLR2A	chr11:66045048-66045773	A549	lung:	n/a	n/a
19	POLR2A	chr11:66045228-66045840	ECC-1	luminal epithelium:	n/a	n/a
20	TAF1	chr11:66045161-66045811	H1-neurons	neurons:	n/a	n/a
21	YY1	chr11:66045239-66045745	HepG2	liver:	n/a	chr11:66045492-66045506
22	NFATC1	chr11:66045429-66045756	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:66045160-66045726	SK-N-SH	brain:	n/a	n/a
24	MAX	chr11:66045522-66045810	K562	blood:	n/a	n/a
25	POLR2A	chr11:66045421-66045679	HCT-116	colon:	n/a	n/a
26	HDAC2	chr11:66045301-66045698	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:66044955-66047256	H1-neurons	neurons:	n/a	n/a
28	JUND	chr11:66045545-66045759	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr11:66045411-66046052	A549	lung:	n/a	n/a
30	POLR2A	chr11:66045368-66046010	A549	lung:	n/a	n/a
31	POLR2A	chr11:66045161-66046203	ProgFib	skin:	n/a	n/a
32	POLR2A	chr11:66045046-66045659	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:66045326-66045996	A549	lung:	n/a	n/a
34	POLR2A	chr11:66044819-66045764	PANC-1	pancreas:	n/a	n/a
35	BCL3	chr11:66045213-66045834	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:66044966-66046890	H1-neurons	neurons:	n/a	n/a
37	E2F6	chr11:66045556-66045728	K562	blood:	n/a	n/a
38	POLR2A	chr11:66044781-66045692	SK-N-MC	brain:	n/a	n/a
39	STAT5A	chr11:66044871-66045602	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:66044986-66046275	H1-hESC	embryonic stem cell:	n/a	n/a
41	ELF1	chr11:66044883-66045707	GM12878	blood:	n/a	chr11:66045562-66045574
42	POLR2A	chr11:66044966-66045990	GM12878	blood:	n/a	n/a
43	PBX3	chr11:66045273-66045746	A549	lung:	n/a	n/a
44	POLR2A	chr11:66044332-66045621	GM12891	blood:	n/a	n/a
45	POLR2A	chr11:66044947-66045940	GM19193	blood:	n/a	n/a
46	ZBTB7A	chr11:66045293-66046008	ECC-1	luminal epithelium:	n/a	chr11:66045307-66045318 chr11:66045307-66045321
47	MAZ	chr11:66044947-66047367	IMR90	lung:	n/a	chr11:66046391-66046401 chr11:66046437-66046446 chr11:66046185-66046195 chr11:66046200-66046210 chr11:66046441-66046450 chr11:66046508-66046518
48	POLR2A	chr11:66044794-66045718	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr11:66045567-66045746	K562	blood:	n/a	n/a
50	REST	chr11:66044785-66047553	H1-neurons	neurons:	n/a	chr11:66045480-66045493 chr11:66047485-66047495 chr11:66045549-66045562

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66045564-66045614	H1-hESC	embryonic stem cell:	embryo
2	chr11:66045564-66045614	HL-60	blood:	n/a
3	chr11:66045560-66045610	HEEpiC	esophagus:	n/a
4	chr11:66045560-66045610	AG04450	lung:	fetal
5	chr11:66045564-66045614	HRCEpiC	kidney:	n/a
6	chr11:66045564-66045614	SK-N-MC	brain:	n/a
7	chr11:66045564-66045614	BE2_C	brain:	n/a
8	chr11:66045564-66045614	AG09309	skin:	n/a
9	chr11:66045564-66045614	NH-A	brain:	n/a
10	chr11:66045564-66045614	PANC-1	pancreas:	n/a
11	chr11:66045564-66045614	GM06990	blood:	n/a
12	chr11:66045560-66045610	AoSMC	blood vessel:	n/a
13	chr11:66045564-66045614	HMEC	breast:	n/a
14	chr11:66045564-66045614	LNCaP	prostate:	n/a
15	chr11:66045560-66045610	U87	brain:	n/a
16	chr11:66045564-66045614	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:66045560-66045610	HCT-116	colon:	n/a
18	chr11:66045560-66045610	SK-N-SH	brain:	n/a
19	chr11:66045560-66045610	IMR90	lung:	fetal
20	chr11:66045564-66045614	K562	blood:	n/a
21	chr11:66045564-66045614	Hepatocyte	liver:	n/a
22	chr11:66045560-66045610	HL-60	blood:	n/a
23	chr11:66045564-66045614	GM12878	blood:	n/a
24	chr11:66045560-66045610	NHDF-neo	bronchial:	n/a
25	chr11:66045560-66045610	HMEC	breast:	n/a
26	chr11:66045560-66045610	Hela-S3	cervix:	n/a
27	chr11:66045560-66045610	HCPEpiC	choroid plexus:	n/a
28	chr11:66045560-66045610	AG04449	skin:	fetal
29	chr11:66045560-66045610	LNCaP	prostate:	n/a
30	chr11:66045564-66045614	HCF	heart:	n/a
31	chr11:66045560-66045610	MCF10A-Er-Src	breast:	n/a
32	chr11:66045560-66045610	HepG2	liver:	n/a
33	chr11:66045564-66045614	HCM	heart:	n/a
34	chr11:66045560-66045610	HRPEpiC	eye:	n/a
35	chr11:66045564-66045614	GM19239	blood:	n/a
36	chr11:66045564-66045614	HEK293	kidney:	embryo
37	chr11:66045560-66045610	HCM	heart:	n/a
38	chr11:66045564-66045614	AG04450	lung:	fetal
39	chr11:66045560-66045610	HUVEC	blood vessel:	n/a
40	chr11:66045564-66045614	NHBE	bronchial:	n/a
41	chr11:66045564-66045614	AG10803	skin:	n/a
42	chr11:66045564-66045614	CMK	blood:	n/a
43	chr11:66045564-66045614	HEEpiC	esophagus:	n/a
44	chr11:66045564-66045614	ProgFib	skin:	n/a
45	chr11:66045560-66045610	NT2-D1	testis:	n/a
46	chr11:66045564-66045614	HRPEpiC	eye:	n/a
47	chr11:66045560-66045610	HAEpiC	amniotic membrane:	n/a
48	chr11:66045564-66045614	Jurkat	blood:	n/a
49	chr11:66045560-66045610	NB4	blood:	n/a
50	chr11:66045564-66045614	NT2-D1	testis:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65999678..66002038-chr11:66045531..66047368,2	K562	blood:
2	chr11:66023062..66027568-chr11:66043406..66047432,6	MCF-7	breast:
3	chr11:65818576..65820605-chr11:66044652..66046444,2	MCF-7	breast:
4	chr11:66045260..66048745-chr11:66100560..66104011,3	K562	blood:
5	chr11:66043530..66045792-chr11:66110035..66112602,2	MCF-7	breast:

No data

Variant related genes	Relation type
CNIH2	TF binding region
ENSG00000254452	TF binding region
CNIH2	CpG island
ENSG00000254452	CpG island
ENSG00000174791	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000254756	Chromatin interaction
ENSG00000174996	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv3438726	chr11:66042776-66047874	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	esv3422064	chr11:66044801-66047349	Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3412458	chr11:66044926-66047424	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66040800-66049600	Weak transcription	NHDF-Ad	bronchial
2	chr11:66042000-66055600	Weak transcription	Fetal Kidney	kidney
3	chr11:66042600-66048400	Weak transcription	A549	lung
4	chr11:66042800-66050200	Weak transcription	K562	blood
5	chr11:66043000-66050200	Weak transcription	Hela-S3	cervix
6	chr11:66044000-66046200	Weak transcription	NHEK	skin
7	chr11:66044000-66047600	Weak transcription	HSMMtube	muscle
8	chr11:66044200-66048600	Weak transcription	NHLF	lung
9	chr11:66044200-66050200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:66044200-66051800	Weak transcription	Fetal Lung	lung
11	chr11:66044400-66045600	Enhancers	Liver	Liver
12	chr11:66044600-66045600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:66044800-66046000	Enhancers	Fetal Intestine Large	intestine
14	chr11:66044800-66046600	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:66044800-66046800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:66045000-66045600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:66045000-66045600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr11:66045000-66045600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr11:66045000-66045600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr11:66045000-66045600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:66045000-66045600	Flanking Active TSS	Colonic Mucosa	Colon
22	chr11:66045000-66045600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:66045000-66045600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:66045000-66045600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:66045000-66045600	Flanking Active TSS	Thymus	Thymus
26	chr11:66045000-66045600	Enhancers	NH-A	brain
27	chr11:66045000-66045600	Enhancers	Osteobl	bone
28	chr11:66045000-66045800	Enhancers	Small Intestine	intestine
29	chr11:66045000-66046000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:66045000-66046400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:66045000-66046400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:66045000-66046400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:66045000-66046600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:66045000-66046800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:66045000-66046800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr11:66045000-66047200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:66045000-66047200	Active TSS	Brain Angular Gyrus	brain
38	chr11:66045000-66047200	Enhancers	Lung	lung
39	chr11:66045000-66047400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr11:66045200-66045600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr11:66045200-66045600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr11:66045200-66045600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:66045200-66045600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:66045200-66045600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:66045200-66045600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:66045200-66045600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:66045200-66045600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr11:66045200-66045600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr11:66045200-66045600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:66045200-66045600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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