Variant report

Variant	rs974369
Chromosome Location	chr22:29366133-29366134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29363426..29366355-chr22:29368106..29371113,3	K562	blood:
2	chr22:29357505..29361534-chr22:29364431..29368155,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs41341948	1.00[EUR][1000 genomes]
rs4820793	1.00[EUR][1000 genomes]
rs4822999	1.00[EUR][1000 genomes]
rs4823001	1.00[EUR][1000 genomes]
rs5752839	0.84[ASN][1000 genomes]
rs5752842	0.86[ASN][1000 genomes]
rs5762906	0.84[ASN][1000 genomes]
rs5762907	0.84[ASN][1000 genomes]
rs61697201	0.81[ASN][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	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	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:29349200-29371800	Weak transcription	HSMM	muscle
3	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
4	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29356800-29366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:29358400-29369400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:29358800-29372200	Weak transcription	Fetal Kidney	kidney
8	chr22:29359200-29372000	Weak transcription	Brain Substantia Nigra	brain
9	chr22:29359600-29373000	Weak transcription	Fetal Intestine Large	intestine
10	chr22:29359800-29372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:29361200-29371600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:29361600-29373000	Weak transcription	Fetal Intestine Small	intestine
13	chr22:29361600-29373000	Weak transcription	Ovary	ovary
14	chr22:29364600-29366200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:29364800-29366200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr22:29364800-29366200	Enhancers	Brain Anterior Caudate	brain
17	chr22:29364800-29366200	Genic enhancers	HepG2	liver
18	chr22:29364800-29366400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr22:29365400-29372600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:29365600-29371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:29365600-29372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:29365600-29373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:29365800-29366600	Weak transcription	Gastric	stomach
24	chr22:29365800-29368600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:29365800-29369400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr22:29365800-29369400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:29365800-29371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:29365800-29371800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:29365800-29371800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:29365800-29371800	Weak transcription	Psoas Muscle	Psoas
31	chr22:29365800-29371800	Weak transcription	NHEK	skin
32	chr22:29365800-29372200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:29365800-29372200	Weak transcription	Stomach Mucosa	stomach
34	chr22:29365800-29372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:29365800-29372600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:29365800-29373400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr22:29365800-29373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
39	chr22:29366000-29371800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:29366000-29371800	Weak transcription	NH-A	brain
41	chr22:29366000-29372000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr22:29366000-29372000	Weak transcription	Liver	Liver
43	chr22:29366000-29372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:29366000-29373000	Weak transcription	Esophagus	oesophagus
45	chr22:29366000-29373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:29366000-29374400	Weak transcription	Lung	lung
47	chr22:29366000-29375400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell

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