Variant report

Variant	rs555358444
Chromosome Location	chr11:66046143-66046144
allele	G/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	RCOR1	chr11:66046037-66046747	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:66046030-66046354	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:66046127-66046298	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:66044955-66047256	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:66045161-66046203	ProgFib	skin:	n/a	n/a
6	ZBTB7A	chr11:66046016-66046720	ECC-1	luminal epithelium:	n/a	chr11:66046180-66046188
7	POLR2A	chr11:66044966-66046890	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr11:66044986-66046275	H1-hESC	embryonic stem cell:	n/a	n/a
9	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
10	REST	chr11:66044785-66047553	H1-neurons	neurons:	n/a	chr11:66045480-66045493 chr11:66047485-66047495 chr11:66045549-66045562
11	EGR1	chr11:66046065-66046272	GM12878	blood:	n/a	chr11:66046198-66046207 chr11:66046197-66046210 chr11:66046198-66046209 chr11:66046197-66046207 chr11:66046192-66046214 chr11:66046197-66046210 chr11:66046194-66046208 chr11:66046197-66046210
12	POLR2A	chr11:66042282-66046515	GM12892	blood:	n/a	n/a
13	TAF1	chr11:66046133-66046614	H1-neurons	neurons:	n/a	n/a
14	SIN3AK20	chr11:66046075-66046333	SK-N-SH	brain:	n/a	n/a
15	SIN3AK20	chr11:66044953-66046330	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:66046030-66046780	K562	blood:	n/a	n/a
17	EGR1	chr11:66046057-66046331	K562	blood:	n/a	chr11:66046198-66046207 chr11:66046197-66046210 chr11:66046198-66046209 chr11:66046197-66046207 chr11:66046192-66046214 chr11:66046197-66046210 chr11:66046194-66046208 chr11:66046197-66046210
18	POLR2A	chr11:66044928-66046353	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:66046048-66046340	K562	blood:	n/a	n/a
20	ZBTB7A	chr11:66046060-66046713	ECC-1	luminal epithelium:	n/a	chr11:66046180-66046188
21	EGR1	chr11:66046034-66046345	K562	blood:	n/a	chr11:66046198-66046207 chr11:66046326-66046336 chr11:66046197-66046210 chr11:66046327-66046337 chr11:66046198-66046209 chr11:66046197-66046207 chr11:66046192-66046214 chr11:66046197-66046210 chr11:66046194-66046208 chr11:66046197-66046210
22	EGR1	chr11:66046112-66046268	GM12878	blood:	n/a	chr11:66046198-66046207 chr11:66046197-66046210 chr11:66046198-66046209 chr11:66046197-66046207 chr11:66046192-66046214 chr11:66046197-66046210 chr11:66046194-66046208 chr11:66046197-66046210
23	ZBTB7A	chr11:66046014-66046329	K562	blood:	n/a	chr11:66046180-66046188
24	POLR2A	chr11:66045151-66046217	HUVEC	blood vessel:	n/a	n/a
25	YY1	chr11:66046131-66046445	K562	blood:	n/a	chr11:66046193-66046204 chr11:66046393-66046402 chr11:66046199-66046208 chr11:66046196-66046205

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:

Variant related genes	Relation type
ENSG00000254452	TF binding region
CNIH2	TF binding region
ENSG00000245156	TF binding region
ENSG00000174996	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000254756	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:107 , 50 per page) page: 1 2 3

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	chr11:66044800-66046600	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:66044800-66046800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:66045000-66046400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:66045000-66046400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:66045000-66046400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:66045000-66046600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:66045000-66046800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:66045000-66046800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr11:66045000-66047200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:66045000-66047200	Active TSS	Brain Angular Gyrus	brain
21	chr11:66045000-66047200	Enhancers	Lung	lung
22	chr11:66045000-66047400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:66045200-66046400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:66045200-66046400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:66045200-66046400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:66045200-66046400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:66045200-66046400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:66045200-66047000	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:66045200-66047200	Enhancers	Spleen	Spleen
30	chr11:66045200-66047600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:66045400-66046200	Weak transcription	Primary T cells from cord blood	blood
32	chr11:66045400-66046200	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr11:66045400-66046200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:66045400-66046200	Active TSS	Right Atrium	heart
35	chr11:66045400-66046200	Active TSS	HepG2	liver
36	chr11:66045400-66046200	Active TSS	HSMM	muscle
37	chr11:66045400-66046400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr11:66045400-66046400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:66045400-66046400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:66045400-66046400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:66045400-66046400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr11:66045400-66046400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:66045400-66046400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:66045400-66046400	Active TSS	Brain Germinal Matrix	brain
45	chr11:66045400-66046400	Weak transcription	Fetal Brain Male	brain
46	chr11:66045400-66046600	Enhancers	Primary B cells from cord blood	blood
47	chr11:66045400-66046600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:66045400-66046600	Active TSS	Fetal Brain Female	brain
49	chr11:66045400-66047200	Active TSS	Brain Anterior Caudate	brain
50	chr11:66045400-66047800	Active TSS	Brain Hippocampus Middle	brain

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