Variant report

Variant	rs5752830
Chromosome Location	chr22:29291395-29291396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29290300..29292504-chr22:29426494..29429452,2	K562	blood:
2	chr22:29283926..29288290-chr22:29291343..29295207,5	K562	blood:
3	chr22:29289372..29291896-chr22:29597783..29600686,2	MCF-7	breast:
4	chr22:29289506..29292443-chr22:29294897..29296592,2	K562	blood:

Variant related genes	Relation type
ENSG00000177993	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16986814	0.95[EUR][1000 genomes]
rs2881637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752820	0.83[EUR][1000 genomes]
rs5752839	0.80[EUR][1000 genomes]
rs5762873	0.96[ASN][1000 genomes]
rs5762876	1.00[ASN][1000 genomes]
rs5762890	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762891	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762893	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762895	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762900	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762906	0.80[EUR][1000 genomes]
rs5762907	0.83[EUR][1000 genomes]
rs7286026	0.83[EUR][1000 genomes]
rs7288513	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7290364	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73388860	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8137589	0.85[EUR][1000 genomes]
rs9306461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625613	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9625621	0.95[EUR][1000 genomes]
rs9625622	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625640	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625641	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625645	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625647	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29281400-29294600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr22:29281400-29295200	Weak transcription	Brain Hippocampus Middle	brain
3	chr22:29281600-29292600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:29282000-29291400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:29282200-29295000	Weak transcription	Brain Substantia Nigra	brain
6	chr22:29283400-29294200	Weak transcription	Aorta	Aorta
7	chr22:29283400-29299000	Weak transcription	Fetal Stomach	stomach
8	chr22:29284200-29292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:29286000-29299000	Weak transcription	Ovary	ovary
10	chr22:29286200-29291600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:29286800-29297800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:29288000-29301800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:29288400-29291400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:29288400-29295000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:29288400-29299000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29288400-29299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:29288600-29292600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:29288600-29292600	Weak transcription	Fetal Kidney	kidney
19	chr22:29288600-29292600	Weak transcription	HSMM	muscle
20	chr22:29288600-29293600	Weak transcription	Liver	Liver
21	chr22:29288600-29294600	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:29288600-29295000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:29288600-29296200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr22:29288600-29298600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:29288800-29292600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:29288800-29292600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:29289600-29291800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr22:29290000-29291400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr22:29290000-29291400	Genic enhancers	HepG2	liver
30	chr22:29290000-29291400	Enhancers	HMEC	breast
31	chr22:29290000-29291800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr22:29290000-29296800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:29290200-29291800	Enhancers	Primary hematopoietic stem cells	blood
34	chr22:29290400-29291400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr22:29290400-29291400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:29290400-29291400	Enhancers	Fetal Intestine Large	intestine
37	chr22:29290400-29291400	Enhancers	Fetal Lung	lung
38	chr22:29290400-29291400	Enhancers	Gastric	stomach
39	chr22:29290400-29291400	Enhancers	Lung	lung
40	chr22:29290400-29291400	Enhancers	Right Ventricle	heart
41	chr22:29290400-29292000	Enhancers	Right Atrium	heart
42	chr22:29290400-29292200	Enhancers	Placenta	Placenta
43	chr22:29290600-29291400	Enhancers	Esophagus	oesophagus
44	chr22:29290600-29292600	Weak transcription	Primary B cells from cord blood	blood
45	chr22:29290600-29292600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:29290600-29292600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr22:29290800-29291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:29290800-29291800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr22:29290800-29292600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr22:29290800-29292600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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