Variant report

Variant	rs568605977
Chromosome Location	chr11:75237661-75237662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr11:75235995-75237680	ECC-1	luminal epithelium:	n/a	chr11:75236136-75236145
2	HCFC1	chr11:75236214-75237809	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:75236233-75237681	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:75236600-75237737	K562	blood:	n/a	n/a
5	SMARCB1	chr11:75235700-75237826	Hela-S3	cervix:	n/a	chr11:75235810-75235819
6	MAX	chr11:75237509-75237800	K562	blood:	n/a	n/a
7	SMC3	chr11:75236376-75237954	SK-N-SH	brain:	n/a	n/a
8	MAZ	chr11:75237600-75237754	K562	blood:	n/a	n/a
9	ZBTB7A	chr11:75235690-75237760	ECC-1	luminal epithelium:	n/a	chr11:75236136-75236145 chr11:75237745-75237752
10	E2F6	chr11:75237616-75237794	K562	blood:	n/a	n/a
11	MXI1	chr11:75235871-75238000	SK-N-SH	brain:	n/a	n/a
12	REST	chr11:75235526-75237939	H1-neurons	neurons:	n/a	chr11:75237005-75237018 chr11:75237192-75237205 chr11:75235727-75235737 chr11:75236561-75236581 chr11:75236569-75236579 chr11:75236191-75236204
13	ZBTB7A	chr11:75236859-75237714	K562	blood:	n/a	n/a
14	MTA3	chr11:75237281-75237712	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75237636-75237686	SK-N-MC	brain:	n/a
2	chr11:75237636-75237686	HepG2	liver:	n/a
3	chr11:75237636-75237686	HUVEC	blood vessel:	n/a
4	chr11:75237636-75237686	MCF10A-Er-Src	breast:	n/a
5	chr11:75237636-75237686	ovcar-3	ovarian:	n/a
6	chr11:75237636-75237686	A549	lung:	n/a
7	chr11:75237636-75237686	NH-A	brain:	n/a
8	chr11:75237636-75237686	ProgFib	skin:	n/a
9	chr11:75237636-75237686	SKMC	muscle:	n/a
10	chr11:75237636-75237686	Hepatocyte	liver:	n/a
11	chr11:75237636-75237686	HEEpiC	esophagus:	n/a
12	chr11:75237636-75237686	PFSK-1	brain:	n/a
13	chr11:75237636-75237686	AG09309	skin:	n/a
14	chr11:75237636-75237686	HMEC	breast:	n/a
15	chr11:75237636-75237686	LNCaP	prostate:	n/a
16	chr11:75237636-75237686	BJ	skin:	n/a
17	chr11:75237636-75237686	AoSMC	blood vessel:	n/a
18	chr11:75237636-75237686	Jurkat	blood:	n/a
19	chr11:75237636-75237686	NB4	blood:	n/a
20	chr11:75237636-75237686	SK-N-SH_RA	brain:	n/a
21	chr11:75237636-75237686	NHDF-neo	bronchial:	n/a
22	chr11:75237636-75237686	HL-60	blood:	n/a
23	chr11:75237636-75237686	SAEC	small airway:	n/a
24	chr11:75237636-75237686	GM12892	blood:	n/a
25	chr11:75237636-75237686	GM06990	blood:	n/a
26	chr11:75237636-75237686	ECC-1	luminal epithelium:	n/a
27	chr11:75237636-75237686	BE2_C	brain:	n/a
28	chr11:75237636-75237686	AG10803	skin:	n/a
29	chr11:75237636-75237686	K562	blood:	n/a
30	chr11:75237636-75237686	HRE	kidney:	n/a
31	chr11:75237636-75237686	PrEC	prostate:	n/a
32	chr11:75237636-75237686	HEK293	kidney:	embryo
33	chr11:75237636-75237686	MCF-7	breast:	n/a
34	chr11:75237636-75237686	HAEpiC	amniotic membrane:	n/a
35	chr11:75237636-75237686	HCT-116	colon:	n/a
36	chr11:75237636-75237686	GM12891	blood:	n/a
37	chr11:75237636-75237686	IMR90	lung:	fetal
38	chr11:75237636-75237686	RPTEC	kidney:	n/a
39	chr11:75237636-75237686	HCPEpiC	choroid plexus:	n/a
40	chr11:75237636-75237686	U87	brain:	n/a
41	chr11:75237636-75237686	SK-N-SH	brain:	n/a
42	chr11:75237636-75237686	PANC-1	pancreas:	n/a
43	chr11:75237636-75237686	T-47D	breast:	n/a
44	chr11:75237636-75237686	HRCEpiC	kidney:	n/a
45	chr11:75237636-75237686	HCM	heart:	n/a
46	chr11:75237636-75237686	NT2-D1	testis:	n/a
47	chr11:75237636-75237686	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:75237636-75237686	AG04449	skin:	fetal
49	chr11:75237636-75237686	HNPCEpiC	eye:	n/a
50	chr11:75237636-75237686	NHBE	bronchial:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
2	chr11:75189541..75191420-chr11:75235512..75237815,2	K562	blood:
3	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
4	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
5	chr11:75237299..75240439-chr11:75240867..75243986,5	MCF-7	breast:
6	chr11:75189920..75194162-chr11:75235512..75239199,3	K562	blood:
7	chr11:75162095..75164647-chr11:75235506..75237767,3	MCF-7	breast:
8	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:

No data

Variant related genes	Relation type
GDPD5	TF binding region
GDPD5	CpG island
ENSG00000158555	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	esv3371732	chr11:75235729-75238277	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75235200-75237800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:75235200-75237800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:75235400-75238000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:75235600-75237800	Active TSS	Right Atrium	heart
5	chr11:75235600-75238000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:75236000-75237800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr11:75236000-75237800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr11:75236000-75237800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:75236000-75237800	Active TSS	A549	lung
10	chr11:75236000-75237800	Active TSS	HSMM	muscle
11	chr11:75236000-75238000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:75236000-75238200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:75236200-75237800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:75236200-75237800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:75236200-75237800	Active TSS	Brain Anterior Caudate	brain
16	chr11:75236400-75237800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:75236400-75237800	Active TSS	Osteobl	bone
18	chr11:75236600-75237800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:75236600-75237800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:75236600-75237800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:75236600-75237800	Active TSS	Fetal Kidney	kidney
22	chr11:75236600-75238000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:75236600-75238000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:75236600-75238000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:75236600-75238000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:75236600-75238000	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr11:75236600-75238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:75236600-75239800	Weak transcription	Fetal Heart	heart
29	chr11:75236800-75237800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr11:75236800-75237800	Active TSS	Fetal Lung	lung
31	chr11:75236800-75237800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:75236800-75238000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:75236800-75238000	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:75237000-75237800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:75237000-75237800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:75237000-75238200	Enhancers	Fetal Brain Male	brain
37	chr11:75237200-75237800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr11:75237200-75237800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr11:75237200-75237800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:75237200-75237800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr11:75237200-75237800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr11:75237200-75237800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:75237200-75238000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:75237200-75238000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:75237400-75237800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:75237400-75237800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:75237400-75237800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:75237400-75237800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:75237400-75237800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr11:75237400-75237800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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