Variant report

Variant	rs974370
Chromosome Location	chr22:29366418-29366419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11912894	1.00[CEU][hapmap]
rs11913805	1.00[CEU][hapmap]
rs12169126	0.92[ASN][1000 genomes]
rs12627758	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16987065	1.00[CEU][hapmap]
rs16987067	1.00[CEU][hapmap]
rs16987167	1.00[CEU][hapmap]
rs41382448	1.00[CEU][hapmap]
rs4508707	1.00[CEU][hapmap]
rs4823000	0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752839	0.84[JPT][hapmap]
rs5752842	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs5752851	0.93[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs5762891	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs5762893	0.92[JPT][hapmap]
rs5762900	0.92[JPT][hapmap]
rs5762906	0.84[JPT][hapmap]
rs5762907	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs5762919	0.93[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs5762930	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs5762931	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs61697201	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs722590	1.00[CEU][hapmap]
rs725281	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7288513	0.92[JPT][hapmap]
rs7290364	0.92[JPT][hapmap]
rs8138320	1.00[CEU][hapmap]
rs8138963	1.00[CEU][hapmap]
rs8139248	1.00[CEU][hapmap]
rs8140511	1.00[CEU][hapmap]
rs8140640	0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8140748	1.00[CEU][hapmap]
rs8141696	1.00[CEU][hapmap]
rs8141812	1.00[CEU][hapmap]
rs9306461	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs9625645	0.86[CHB][hapmap];0.92[JPT][hapmap]

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:47 , 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	chr22:29358400-29369400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:29358800-29372200	Weak transcription	Fetal Kidney	kidney
7	chr22:29359200-29372000	Weak transcription	Brain Substantia Nigra	brain
8	chr22:29359600-29373000	Weak transcription	Fetal Intestine Large	intestine
9	chr22:29359800-29372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:29361200-29371600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:29361600-29373000	Weak transcription	Fetal Intestine Small	intestine
12	chr22:29361600-29373000	Weak transcription	Ovary	ovary
13	chr22:29365400-29372600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:29365600-29371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:29365600-29372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:29365600-29373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr22:29365800-29366600	Weak transcription	Gastric	stomach
18	chr22:29365800-29368600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29365800-29369400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:29365800-29369400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:29365800-29371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:29365800-29371800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:29365800-29371800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:29365800-29371800	Weak transcription	Psoas Muscle	Psoas
25	chr22:29365800-29371800	Weak transcription	NHEK	skin
26	chr22:29365800-29372200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:29365800-29372200	Weak transcription	Stomach Mucosa	stomach
28	chr22:29365800-29372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:29365800-29372600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr22:29365800-29373400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr22:29365800-29373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
33	chr22:29366000-29371800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:29366000-29371800	Weak transcription	NH-A	brain
35	chr22:29366000-29372000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:29366000-29372000	Weak transcription	Liver	Liver
37	chr22:29366000-29372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:29366000-29373000	Weak transcription	Esophagus	oesophagus
39	chr22:29366000-29373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:29366000-29374400	Weak transcription	Lung	lung
41	chr22:29366000-29375400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr22:29366200-29367400	Strong transcription	HepG2	liver
44	chr22:29366200-29371800	Weak transcription	Brain Anterior Caudate	brain
45	chr22:29366200-29372600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:29366200-29373000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:29366400-29371800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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