Variant report

Variant	rs9608597
Chromosome Location	chr22:27714574-27714575
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	POLR2A	chr22:27714287-27714913	H1-neurons	neurons:	n/a	n/a
2	CEBPB	chr22:27714457-27714786	K562	blood:	n/a	n/a
3	KAP1	chr22:27713856-27714698	HEK293	kidney:	n/a	n/a
4	POLR2A	chr22:27713770-27714967	SK-N-MC	brain:	n/a	n/a
5	FOS	chr22:27714560-27714764	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr22:27714482-27714768	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOXP2	chr22:27714432-27714994	SK-N-MC	brain:	n/a	n/a
8	FOXA1	chr22:27714497-27714868	T-47D	breast:	n/a	n/a
9	CEBPB	chr22:27714497-27714784	IMR90	lung:	n/a	n/a
10	FOXA1	chr22:27714536-27714841	T-47D	breast:	n/a	n/a
11	FOXP2	chr22:27714452-27714727	SK-N-MC	brain:	n/a	n/a
12	REST	chr22:27714321-27714959	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr22:27714434-27714906	H1-neurons	neurons:	n/a	n/a
14	REST	chr22:27714312-27715289	H1-neurons	neurons:	n/a	n/a
15	CEBPB	chr22:27714489-27714797	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000223726	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs497150	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs563522	0.92[ASN][1000 genomes]
rs84312	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27706800-27715400	Enhancers	Fetal Intestine Large	intestine
2	chr22:27707200-27715400	Enhancers	Fetal Intestine Small	intestine
3	chr22:27707400-27714600	Enhancers	Colonic Mucosa	Colon
4	chr22:27708200-27715200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr22:27709000-27714600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:27709000-27715600	Enhancers	Fetal Brain Male	brain
7	chr22:27709400-27714600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:27709800-27714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:27710400-27714600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:27710800-27714600	Weak transcription	Ovary	ovary
11	chr22:27712600-27714800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:27712800-27715000	Enhancers	Fetal Muscle Trunk	muscle
13	chr22:27712800-27715200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr22:27712800-27715200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:27712800-27715200	Enhancers	Adipose Nuclei	Adipose
16	chr22:27713000-27714600	Enhancers	Duodenum Mucosa	Duodenum
17	chr22:27713000-27715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:27713200-27714800	Enhancers	Rectal Smooth Muscle	rectum
19	chr22:27713200-27714800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:27713200-27715000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr22:27713200-27715200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr22:27713400-27715000	Enhancers	Fetal Kidney	kidney
23	chr22:27713400-27715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:27713400-27715200	Enhancers	Primary hematopoietic stem cells	blood
25	chr22:27713400-27715200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:27713400-27715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:27713600-27714800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr22:27713600-27714800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr22:27713600-27714800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr22:27713600-27714800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:27713600-27715000	Enhancers	Colon Smooth Muscle	Colon
32	chr22:27713600-27715000	Enhancers	Fetal Muscle Leg	muscle
33	chr22:27713800-27714600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:27713800-27714600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:27713800-27714800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr22:27713800-27715200	Enhancers	NHEK	skin
37	chr22:27713800-27715600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:27714000-27714600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr22:27714000-27714600	Enhancers	HSMMtube	muscle
40	chr22:27714000-27714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:27714000-27714800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr22:27714000-27715000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr22:27714000-27715000	Enhancers	Osteobl	bone
44	chr22:27714000-27715200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:27714200-27714800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:27714200-27715000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr22:27714200-27715000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr22:27714200-27715200	Enhancers	Fetal Heart	heart
49	chr22:27714200-27715200	Enhancers	Fetal Lung	lung
50	chr22:27714200-27715200	Enhancers	NH-A	brain

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