Variant report

Variant	rs199873764
Chromosome Location	chr11:57365822-57365823
allele	A/C
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	MXI1	chr11:57365398-57365959	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr11:57365669-57365848	K562	blood:	n/a	n/a
3	CREB1	chr11:57365461-57366106	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr11:57365670-57366022	H1-hESC	embryonic stem cell:	n/a	chr11:57365818-57365831
5	RXRA	chr11:57365550-57366019	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr11:57365432-57366062	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr11:57365225-57366034	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr11:57365544-57366110	H1-hESC	embryonic stem cell:	n/a	chr11:57365818-57365831
9	TCF12	chr11:57365318-57365991	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr11:57365625-57365942	H1-hESC	embryonic stem cell:	n/a	chr11:57365835-57365844
11	YY1	chr11:57365536-57365978	H1-hESC	embryonic stem cell:	n/a	chr11:57365733-57365753
12	CHD2	chr11:57365286-57365976	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB7A	chr11:57365670-57365842	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:57364924-57366079	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr11:57364902-57365983	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr11:57365600-57365953	H1-hESC	embryonic stem cell:	n/a	n/a
17	HDAC2	chr11:57365653-57365920	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr11:57364894-57366004	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:57365514-57365929	ProgFib	skin:	n/a	n/a
20	POLR2A	chr11:57365439-57365905	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr11:57365134-57366127	H1-hESC	embryonic stem cell:	n/a	chr11:57365404-57365413 chr11:57365358-57365368 chr11:57365449-57365459
22	SP4	chr11:57365428-57365980	H1-hESC	embryonic stem cell:	n/a	chr11:57365599-57365610 chr11:57365562-57365573
23	SP1	chr11:57365411-57366025	H1-hESC	embryonic stem cell:	n/a	chr11:57365444-57365453 chr11:57365443-57365457 chr11:57365442-57365454 chr11:57365593-57365607 chr11:57365504-57365518 chr11:57365449-57365463 chr11:57365599-57365610 chr11:57365596-57365610 chr11:57365442-57365454 chr11:57365562-57365573
24	ATF2	chr11:57365519-57366056	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr11:57365615-57365822	SK-N-SH	brain:	n/a	n/a
26	SP4	chr11:57365447-57365960	H1-hESC	embryonic stem cell:	n/a	chr11:57365599-57365610 chr11:57365562-57365573
27	SIN3A	chr11:57365286-57366133	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF7	chr11:57365529-57365987	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr11:57365204-57366089	H1-hESC	embryonic stem cell:	n/a	chr11:57365835-57365844 chr11:57365234-57365248
30	POLR2A	chr11:57365662-57365879	H1-hESC	embryonic stem cell:	n/a	n/a
31	HDAC2	chr11:57365610-57365949	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTBP2	chr11:57365451-57366071	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP1	chr11:57365000-57366135	H1-hESC	embryonic stem cell:	n/a	chr11:57365444-57365453 chr11:57365274-57365288 chr11:57365443-57365457 chr11:57365442-57365454 chr11:57365593-57365607 chr11:57365504-57365518 chr11:57365398-57365412 chr11:57365449-57365463 chr11:57365399-57365408 chr11:57365599-57365610 chr11:57365596-57365610 chr11:57365442-57365454 chr11:57365562-57365573
34	JUN	chr11:57365761-57366037	H1-hESC	embryonic stem cell:	n/a	chr11:57365835-57365844
35	JUND	chr11:57365636-57365860	H1-hESC	embryonic stem cell:	n/a	chr11:57365835-57365844
36	TAF1	chr11:57365362-57365900	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr11:57365510-57366116	H1-hESC	embryonic stem cell:	n/a	chr11:57365733-57365753
38	MAX	chr11:57365008-57366064	H1-hESC	embryonic stem cell:	n/a	chr11:57365404-57365413 chr11:57365358-57365368 chr11:57365449-57365459
39	RAD21	chr11:57365539-57365979	H1-hESC	embryonic stem cell:	n/a	chr11:57365583-57365596
40	ZNF143	chr11:57365136-57366063	H1-hESC	embryonic stem cell:	n/a	chr11:57365395-57365413 chr11:57365857-57365867 chr11:57365498-57365516
41	POLR2A	chr11:57365211-57366022	SK-N-MC	brain:	n/a	n/a
42	ZNF263	chr11:57365436-57366355	HEK293-T-REx	kidney:	n/a	chr11:57365595-57365604 chr11:57365564-57365573 chr11:57366197-57366206 chr11:57365598-57365607 chr11:57365565-57365586
43	POLR2A	chr11:57364902-57365914	H1-hESC	embryonic stem cell:	n/a	n/a
44	HDAC2	chr11:57365625-57365904	HepG2	liver:	n/a	n/a
45	EP300	chr11:57365401-57365959	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF12	chr11:57365302-57365989	H1-hESC	embryonic stem cell:	n/a	n/a
47	GTF2F1	chr11:57365525-57365950	H1-hESC	embryonic stem cell:	n/a	n/a
48	EP300	chr11:57365276-57365958	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr11:57365577-57366050	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAZ	chr11:57365143-57366079	IMR90	lung:	n/a	chr11:57365404-57365413 chr11:57365358-57365368 chr11:57365449-57365459

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57363269..57366608-chr11:57366625..57370345,5	K562	blood:
2	chr11:57280138..57282809-chr11:57363760..57366213,2	MCF-7	breast:

Variant related genes	Relation type
SERPING1	TF binding region
ENSG00000149131	Chromatin interaction
ENSG00000149150	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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv897588	chr11:57364381-57373478	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57364400-57366800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr11:57364600-57366000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:57364600-57366000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:57364600-57366000	Active TSS	Brain Anterior Caudate	brain
5	chr11:57364600-57366000	Active TSS	Rectal Smooth Muscle	rectum
6	chr11:57364600-57366600	Active TSS	Colonic Mucosa	Colon
7	chr11:57364600-57366800	Active TSS	Aorta	Aorta
8	chr11:57364600-57366800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:57364600-57366800	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr11:57364600-57366800	Active TSS	Ovary	ovary
11	chr11:57364800-57366000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:57364800-57366000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:57364800-57366000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:57364800-57366000	Active TSS	Liver	Liver
15	chr11:57364800-57366000	Active TSS	Brain Angular Gyrus	brain
16	chr11:57364800-57366000	Active TSS	Brain Cingulate Gyrus	brain
17	chr11:57364800-57366000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:57364800-57366000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:57364800-57366200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:57364800-57366200	Active TSS	Brain Germinal Matrix	brain
21	chr11:57364800-57366200	Active TSS	Duodenum Mucosa	Duodenum
22	chr11:57364800-57366400	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr11:57364800-57366400	Active TSS	Psoas Muscle	Psoas
24	chr11:57364800-57366400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
25	chr11:57364800-57366600	Active TSS	Left Ventricle	heart
26	chr11:57364800-57366800	Active TSS	Right Atrium	heart
27	chr11:57364800-57366800	Active TSS	Right Ventricle	heart
28	chr11:57365000-57366000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:57365000-57366000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:57365000-57366000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:57365000-57366000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:57365000-57366000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:57365000-57366000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:57365000-57366000	Active TSS	Esophagus	oesophagus
35	chr11:57365000-57366000	Active TSS	Fetal Kidney	kidney
36	chr11:57365000-57366000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr11:57365000-57366000	Active TSS	NHDF-Ad	bronchial
38	chr11:57365000-57366000	Active TSS	Osteobl	bone
39	chr11:57365000-57366200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:57365000-57366200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:57365000-57366200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:57365000-57366200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr11:57365000-57366200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:57365000-57366200	Active TSS	Colon Smooth Muscle	Colon
45	chr11:57365000-57366200	Active TSS	Fetal Brain Female	brain
46	chr11:57365000-57366200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr11:57365000-57366200	Active TSS	Pancreas	Pancrea
48	chr11:57365000-57366800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:57365000-57367200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:57365000-57367200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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