Variant report

Variant	rs57074000
Chromosome Location	chr11:75269543-75269544
allele	A/G
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	RCOR1	chr11:75269222-75271013	K562	blood:	n/a	n/a
2	NFIC	chr11:75268989-75269701	SK-N-SH	brain:	n/a	n/a
3	MAZ	chr11:75268348-75271161	IMR90	lung:	n/a	chr11:75270176-75270183 chr11:75270177-75270193 chr11:75268906-75268916 chr11:75269359-75269368 chr11:75269445-75269455
4	POLR2A	chr11:75268812-75269736	HUVEC	blood vessel:	n/a	n/a
5	NFIC	chr11:75268808-75269803	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:75269102-75269577	SK-N-SH	brain:	n/a	n/a
7	MXI1	chr11:75268331-75269845	IMR90	lung:	n/a	n/a
8	FOSL2	chr11:75269022-75269641	SK-N-SH	brain:	n/a	chr11:75269357-75269369 chr11:75269359-75269367 chr11:75269362-75269369 chr11:75269618-75269627
9	FOS	chr11:75269225-75269548	MCF10A-Er-Src	breast:	n/a	chr11:75269357-75269369 chr11:75269359-75269367 chr11:75269362-75269369
10	POLR2A	chr11:75269155-75269572	HUVEC	blood vessel:	n/a	n/a
11	FOS	chr11:75269213-75269543	MCF10A-Er-Src	breast:	n/a	chr11:75269357-75269369 chr11:75269359-75269367 chr11:75269362-75269369
12	MYC	chr11:75269225-75269615	MCF10A-Er-Src	breast:	n/a	chr11:75269359-75269368 chr11:75269445-75269455
13	POLR2A	chr11:75268955-75269635	U87	brain:	n/a	n/a
14	MAX	chr11:75268934-75269603	SK-N-SH	brain:	n/a	chr11:75269359-75269368 chr11:75269445-75269455
15	MYC	chr11:75269187-75269547	MCF10A-Er-Src	breast:	n/a	chr11:75269359-75269368 chr11:75269445-75269455

No.	Distal block	Cell Line	Cell type
1	chr11:75109345..75111138-chr11:75267506..75271056,3	K562	blood:
2	chr11:75109385..75112508-chr11:75266595..75269626,3	K562	blood:
3	chr11:75267704..75270313-chr11:75526283..75528540,2	K562	blood:
4	chr11:75258907..75261694-chr11:75269136..75271586,3	K562	blood:

Variant related genes	Relation type
SERPINH1	TF binding region
ENSG00000255507	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73505021	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75263800-75272600	Enhancers	Fetal Muscle Trunk	muscle
2	chr11:75263800-75272600	Enhancers	Fetal Muscle Leg	muscle
3	chr11:75265600-75270000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:75266000-75269600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:75266000-75270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:75266200-75269600	Weak transcription	Fetal Kidney	kidney
7	chr11:75266200-75272800	Enhancers	Fetal Stomach	stomach
8	chr11:75266400-75269600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:75266400-75269800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:75266400-75269800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:75266600-75269600	Weak transcription	Brain Anterior Caudate	brain
12	chr11:75266800-75269600	Weak transcription	Brain Angular Gyrus	brain
13	chr11:75266800-75269600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:75266800-75269600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:75266800-75269600	Weak transcription	Brain Substantia Nigra	brain
16	chr11:75267400-75272800	Enhancers	Fetal Heart	heart
17	chr11:75267800-75272400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:75268000-75269600	Enhancers	Fetal Lung	lung
19	chr11:75268000-75269600	Enhancers	NH-A	brain
20	chr11:75268000-75269800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr11:75268000-75270000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:75268000-75270000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:75268000-75271200	Enhancers	Ovary	ovary
24	chr11:75268000-75272600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:75268000-75272800	Enhancers	Placenta	Placenta
26	chr11:75268000-75272800	Enhancers	Fetal Thymus	thymus
27	chr11:75268200-75269800	Enhancers	HSMM	muscle
28	chr11:75268200-75270000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:75268200-75270000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr11:75268200-75270000	Enhancers	Right Atrium	heart
31	chr11:75268200-75270800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:75268200-75271000	Enhancers	Lung	lung
33	chr11:75268200-75271200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:75268200-75271200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:75268200-75271200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:75268400-75269800	Weak transcription	Gastric	stomach
37	chr11:75268400-75270000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:75268400-75270000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:75268400-75270200	Enhancers	HMEC	breast
40	chr11:75268400-75270800	Enhancers	Fetal Brain Male	brain
41	chr11:75268400-75270800	Enhancers	Right Ventricle	heart
42	chr11:75268400-75270800	Enhancers	NHEK	skin
43	chr11:75268400-75272800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:75268600-75269800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:75268600-75270000	Enhancers	Aorta	Aorta
46	chr11:75268600-75270600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:75268600-75270800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:75268600-75270800	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:75268600-75270800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr11:75268600-75271000	Enhancers	Left Ventricle	heart

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