Variant report

Variant	rs371013246
Chromosome Location	chr11:65835587-65835588
allele	C/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	RAD21	chr11:65835562-65836088	MCF-7	breast:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
2	RAD21	chr11:65835523-65836187	MCF-7	breast:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
3	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
4	CTCF	chr11:65835460-65835610	WI-38	lung:	n/a	n/a
5	CTCF	chr11:65835581-65836204	HCT-116	colon:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
6	SMC3	chr11:65835527-65836336	SK-N-SH	brain:	n/a	chr11:65835874-65835888
7	RAD21	chr11:65835465-65836266	HCT-116	colon:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
8	TCF12	chr11:65835507-65837748	A549	lung:	n/a	n/a
9	POLR2A	chr11:65835449-65835961	GM12878	blood:	n/a	n/a
10	MAX	chr11:65835548-65836010	K562	blood:	n/a	n/a
11	CTCF	chr11:65834913-65836259	A549	lung:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
12	NFIC	chr11:65835582-65836135	ECC-1	luminal epithelium:	n/a	n/a
13	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
14	POLR2A	chr11:65835508-65836054	HL-60	blood:	n/a	n/a
15	RAD21	chr11:65835528-65836168	A549	lung:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
16	CTCF	chr11:65835520-65835670	GM12869	blood:	n/a	n/a
17	CTCF	chr11:65835507-65836181	MCF-7	breast:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
18	MAX	chr11:65835551-65836053	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:65835192-65835624	PFSK-1	brain:	n/a	n/a
20	RAD21	chr11:65835566-65836116	HCT-116	colon:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
21	POLR2A	chr11:65835473-65836002	GM12892	blood:	n/a	n/a
22	ZNF263	chr11:65835481-65836134	HEK293-T-REx	kidney:	n/a	chr11:65835734-65835755
23	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
24	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	chr11:65826023..65826968-chr11:65835410..65836300,2	K562	blood:
16	chr11:65773321..65775670-chr11:65834388..65836189,2	K562	blood:

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000175115	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172757	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	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
2	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:65821200-65835600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:65821200-65836000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:65821200-65836000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:65821200-65836000	Strong transcription	Fetal Intestine Large	intestine
8	chr11:65821200-65836000	Strong transcription	NHLF	lung
9	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
11	chr11:65821400-65835600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:65821400-65835600	Strong transcription	Brain Germinal Matrix	brain
13	chr11:65821400-65835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:65821600-65836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:65821800-65835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:65821800-65835800	Strong transcription	K562	blood
18	chr11:65821800-65836000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr11:65821800-65836000	Strong transcription	Primary T cells from cord blood	blood
20	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
21	chr11:65822000-65835600	Strong transcription	Brain Anterior Caudate	brain
22	chr11:65822000-65835600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:65822000-65835600	Strong transcription	Colonic Mucosa	Colon
24	chr11:65822000-65835600	Strong transcription	Gastric	stomach
25	chr11:65822000-65835600	Strong transcription	Rectal Smooth Muscle	rectum
26	chr11:65822000-65835600	Strong transcription	NHDF-Ad	bronchial
27	chr11:65822000-65835800	Strong transcription	Fetal Lung	lung
28	chr11:65822000-65835800	Strong transcription	Ovary	ovary
29	chr11:65822000-65835800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:65822000-65836000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:65822000-65836000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:65822000-65836000	Strong transcription	HUVEC	blood vessel
33	chr11:65822000-65836000	Strong transcription	NH-A	brain
34	chr11:65822000-65836200	Strong transcription	Hela-S3	cervix
35	chr11:65822000-65836400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:65822000-65836400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:65822000-65836400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:65822200-65835600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:65822200-65835600	Strong transcription	HSMM	muscle
40	chr11:65822200-65835800	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr11:65822200-65836000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr11:65822200-65836200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:65822200-65836600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr11:65822400-65835600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:65822600-65836400	Strong transcription	Brain Angular Gyrus	brain
46	chr11:65823600-65835800	Strong transcription	Osteobl	bone
47	chr11:65824200-65835600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:65825600-65835600	Strong transcription	Fetal Kidney	kidney
49	chr11:65828200-65836400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:65828200-65838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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