Variant report

Variant	rs560724929
Chromosome Location	chr11:57365216-57365217
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	ZBTB7A	chr11:57365159-57365326	K562	blood:	n/a	n/a
2	POLR2A	chr11:57365168-57365260	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:57364924-57366079	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr11:57364902-57365983	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr11:57364894-57366004	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr11:57365134-57366127	H1-hESC	embryonic stem cell:	n/a	chr11:57365404-57365413 chr11:57365358-57365368 chr11:57365449-57365459
7	POLR2A	chr11:57365085-57365628	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr11:57365204-57366089	H1-hESC	embryonic stem cell:	n/a	chr11:57365835-57365844 chr11:57365234-57365248
9	POLR2A	chr11:57365135-57365409	H1-hESC	embryonic stem cell:	n/a	n/a
10	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
11	MAX	chr11:57365008-57366064	H1-hESC	embryonic stem cell:	n/a	chr11:57365404-57365413 chr11:57365358-57365368 chr11:57365449-57365459
12	ZNF143	chr11:57365136-57366063	H1-hESC	embryonic stem cell:	n/a	chr11:57365395-57365413 chr11:57365857-57365867 chr11:57365498-57365516
13	POLR2A	chr11:57365211-57366022	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr11:57364902-57365914	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr11:57364886-57365345	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr11:57365143-57366079	IMR90	lung:	n/a	chr11:57365404-57365413 chr11:57365358-57365368 chr11:57365449-57365459
17	POLR2A	chr11:57364743-57365978	H1-hESC	embryonic stem cell:	n/a	n/a

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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57363000-57365400	Weak transcription	Fetal Thymus	thymus
2	chr11:57364400-57366800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr11:57364600-57365400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:57364600-57365400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:57364600-57366000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr11:57364600-57366000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:57364600-57366000	Active TSS	Brain Anterior Caudate	brain
8	chr11:57364600-57366000	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:57364600-57366600	Active TSS	Colonic Mucosa	Colon
10	chr11:57364600-57366800	Active TSS	Aorta	Aorta
11	chr11:57364600-57366800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:57364600-57366800	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr11:57364600-57366800	Active TSS	Ovary	ovary
14	chr11:57364800-57365400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
15	chr11:57364800-57365800	Active TSS	Brain Hippocampus Middle	brain
16	chr11:57364800-57365800	Active TSS	Brain Substantia Nigra	brain
17	chr11:57364800-57365800	Enhancers	Fetal Brain Male	brain
18	chr11:57364800-57365800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr11:57364800-57366000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:57364800-57366000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:57364800-57366000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:57364800-57366000	Active TSS	Liver	Liver
23	chr11:57364800-57366000	Active TSS	Brain Angular Gyrus	brain
24	chr11:57364800-57366000	Active TSS	Brain Cingulate Gyrus	brain
25	chr11:57364800-57366000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr11:57364800-57366000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:57364800-57366200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:57364800-57366200	Active TSS	Brain Germinal Matrix	brain
29	chr11:57364800-57366200	Active TSS	Duodenum Mucosa	Duodenum
30	chr11:57364800-57366400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr11:57364800-57366400	Active TSS	Psoas Muscle	Psoas
32	chr11:57364800-57366400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:57364800-57366600	Active TSS	Left Ventricle	heart
34	chr11:57364800-57366800	Active TSS	Right Atrium	heart
35	chr11:57364800-57366800	Active TSS	Right Ventricle	heart
36	chr11:57365000-57365400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:57365000-57365400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:57365000-57365400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr11:57365000-57365600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:57365000-57365800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:57365000-57365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:57365000-57365800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:57365000-57365800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:57365000-57365800	Active TSS	Adipose Nuclei	Adipose
45	chr11:57365000-57365800	Active TSS	HepG2	liver
46	chr11:57365000-57366000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:57365000-57366000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:57365000-57366000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:57365000-57366000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:57365000-57366000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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