Variant report

Variant	rs200682390
Chromosome Location	chr11:65835678-65835679
allele	A/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	HDAC2	chr11:65835653-65836036	K562	blood:	n/a	n/a
2	RAD21	chr11:65835562-65836088	MCF-7	breast:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
3	POLR2A	chr11:65835647-65836051	MCF-7	breast:	n/a	n/a
4	RAD21	chr11:65835631-65836117	A549	lung:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
5	RAD21	chr11:65835523-65836187	MCF-7	breast:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
6	RAD21	chr11:65835352-65836316	SK-N-SH	brain:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
7	POLR2A	chr11:65835639-65836013	K562	blood:	n/a	n/a
8	ATF3	chr11:65835648-65836190	A549	lung:	n/a	n/a
9	POLR2A	chr11:65835674-65835970	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:65835676-65836063	T-47D	breast:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
11	CTCF	chr11:65835581-65836204	HCT-116	colon:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
12	NRF1	chr11:65835625-65838067	SK-N-SH	brain:	n/a	chr11:65837813-65837824 chr11:65837810-65837824
13	SMC3	chr11:65835527-65836336	SK-N-SH	brain:	n/a	chr11:65835874-65835888
14	STAT3	chr11:65835652-65835678	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr11:65835592-65836076	A549	lung:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
16	CTCF	chr11:65835677-65836067	K562	blood:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
17	CTCF	chr11:65835636-65836169	K562	blood:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
18	RAD21	chr11:65835465-65836266	HCT-116	colon:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
19	RAD21	chr11:65835652-65836049	SK-N-SH_RA	brain:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
20	TCF12	chr11:65835507-65837748	A549	lung:	n/a	n/a
21	MTA3	chr11:65835659-65837825	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:65835449-65835961	GM12878	blood:	n/a	n/a
23	RAD21	chr11:65835678-65836088	HepG2	liver:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
24	MAX	chr11:65835548-65836010	K562	blood:	n/a	n/a
25	CTCF	chr11:65834913-65836259	A549	lung:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
26	NFIC	chr11:65835582-65836135	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr11:65834974-65838748	SK-N-SH	brain:	n/a	chr11:65838478-65838491 chr11:65838476-65838494 chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
28	CTCF	chr11:65835649-65836080	H1-hESC	embryonic stem cell:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
29	POLR2A	chr11:65835508-65836054	HL-60	blood:	n/a	n/a
30	RAD21	chr11:65835528-65836168	A549	lung:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
31	RAD21	chr11:65835630-65836074	SK-N-SH_RA	brain:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
32	YY1	chr11:65835602-65836009	GM12878	blood:	n/a	n/a
33	CTCF	chr11:65835654-65836134	MCF-7	breast:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
34	CTCF	chr11:65835507-65836181	MCF-7	breast:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
35	MAX	chr11:65835551-65836053	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr11:65835662-65836031	HepG2	liver:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
37	RAD21	chr11:65835566-65836116	HCT-116	colon:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
38	POLR2A	chr11:65835473-65836002	GM12892	blood:	n/a	n/a
39	SIN3AK20	chr11:65835646-65836003	SK-N-SH	brain:	n/a	n/a
40	ZNF263	chr11:65835481-65836134	HEK293-T-REx	kidney:	n/a	chr11:65835734-65835755
41	CBX3	chr11:65835672-65836086	K562	blood:	n/a	n/a
42	RAD21	chr11:65835555-65836128	ECC-1	luminal epithelium:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
43	CTCF	chr11:65835641-65836054	HepG2	liver:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
44	RAD21	chr11:65835582-65836091	H1-hESC	embryonic stem cell:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965

No.	Distal block	Cell Line	Cell type
1	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
2	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
3	chr11:65812201..65814006-chr11:65833921..65836110,2	K562	blood:
4	chr11:65656719..65659047-chr11:65835301..65837715,2	MCF-7	breast:
5	chr11:65665582..65668888-chr11:65835107..65838015,3	K562	blood:
6	chr11:65788482..65791914-chr11:65833749..65837289,3	MCF-7	breast:
7	chr11:65638895..65641565-chr11:65834356..65837225,2	K562	blood:
8	chr11:65833653..65835792-chr11:65836386..65838541,2	MCF-7	breast:
9	chr11:65756158..65757092-chr11:65835112..65836021,4	MCF-7	breast:
10	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
11	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
12	chr11:65835414..65836385-chr11:65901737..65902639,2	MCF-7	breast:
13	chr11:65625072..65626937-chr11:65835477..65837832,2	K562	blood:
14	chr11:65835450..65836031-chr11:65902174..65902687,2	K562	blood:
15	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
16	chr11:65826023..65826968-chr11:65835410..65836300,2	K562	blood:
17	chr11:65773321..65775670-chr11:65834388..65836189,2	K562	blood:

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000175294	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175334	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	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
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	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
6	esv3321690	chr11:65835376-65839974	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:65821200-65836000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:65821200-65836000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:65821200-65836000	Strong transcription	Fetal Intestine Large	intestine
6	chr11:65821200-65836000	Strong transcription	NHLF	lung
7	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
9	chr11:65821400-65835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:65821600-65836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:65821800-65835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:65821800-65835800	Strong transcription	K562	blood
14	chr11:65821800-65836000	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr11:65821800-65836000	Strong transcription	Primary T cells from cord blood	blood
16	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
17	chr11:65822000-65835800	Strong transcription	Fetal Lung	lung
18	chr11:65822000-65835800	Strong transcription	Ovary	ovary
19	chr11:65822000-65835800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr11:65822000-65836000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:65822000-65836000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:65822000-65836000	Strong transcription	HUVEC	blood vessel
23	chr11:65822000-65836000	Strong transcription	NH-A	brain
24	chr11:65822000-65836200	Strong transcription	Hela-S3	cervix
25	chr11:65822000-65836400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:65822000-65836400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:65822000-65836400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:65822200-65835800	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr11:65822200-65836000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr11:65822200-65836200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:65822200-65836600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr11:65822600-65836400	Strong transcription	Brain Angular Gyrus	brain
33	chr11:65823600-65835800	Strong transcription	Osteobl	bone
34	chr11:65828200-65836400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:65828200-65838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:65828400-65836000	Strong transcription	HMEC	breast
37	chr11:65828400-65836600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:65828600-65836000	Strong transcription	NHEK	skin
39	chr11:65829400-65836800	Strong transcription	Dnd41	blood
40	chr11:65831800-65836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:65831800-65836800	Weak transcription	Small Intestine	intestine
42	chr11:65832400-65836800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:65832800-65837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:65833000-65836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:65833000-65836000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:65833000-65836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:65833200-65836000	Strong transcription	Fetal Intestine Small	intestine
48	chr11:65833600-65836600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:65833800-65835800	Strong transcription	Aorta	Aorta
50	chr11:65833800-65836000	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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