Variant report

Variant	rs2072774
Chromosome Location	chr22:29425749-29425750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29420060..29422045-chr22:29423425..29426418,2	MCF-7	breast:
2	chr22:29411681..29414398-chr22:29425375..29427146,2	K562	blood:
3	chr22:29343042..29345424-chr22:29425071..29426674,2	K562	blood:
4	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12484832	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs132565	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17440734	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1883197	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1977047	0.80[EUR][1000 genomes]
rs1983553	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064084	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28541979	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4140643	0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4580479	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs469994	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4820794	0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4823002	0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4823003	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4823005	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5997430	0.85[EUR][1000 genomes]
rs5997431	0.84[EUR][1000 genomes]
rs5997432	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997433	0.89[EUR][1000 genomes]
rs5997434	0.82[EUR][1000 genomes]
rs5997435	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6005954	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6005958	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6005959	0.84[EUR][1000 genomes]
rs6005964	0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6005965	0.87[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs713834	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727892	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7284304	0.84[EUR][1000 genomes]
rs7290304	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs738246	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs8137254	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8137499	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8142591	0.83[EUR][1000 genomes]
rs874916	0.82[EUR][1000 genomes]
rs874917	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9608719	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9608721	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9613776	0.84[EUR][1000 genomes]
rs9613777	0.81[EUR][1000 genomes]
rs9613784	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9613785	0.86[JPT][hapmap];0.83[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
2	chr22:29415200-29426200	Weak transcription	Aorta	Aorta
3	chr22:29419600-29426000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr22:29419600-29426200	Weak transcription	HSMM	muscle
5	chr22:29419800-29425800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:29419800-29426000	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:29419800-29426200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:29419800-29426200	Weak transcription	Ovary	ovary
9	chr22:29419800-29426200	Weak transcription	Right Atrium	heart
10	chr22:29420000-29426400	Weak transcription	Esophagus	oesophagus
11	chr22:29420000-29426400	Weak transcription	Left Ventricle	heart
12	chr22:29420000-29426400	Weak transcription	Lung	lung
13	chr22:29420000-29426400	Weak transcription	Right Ventricle	heart
14	chr22:29420600-29425800	Weak transcription	HUVEC	blood vessel
15	chr22:29420600-29426400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:29420600-29427800	Weak transcription	Brain Substantia Nigra	brain
17	chr22:29420800-29426200	Weak transcription	Adipose Nuclei	Adipose
18	chr22:29421000-29426000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:29421600-29426000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:29422600-29425800	Weak transcription	Fetal Heart	heart
21	chr22:29423600-29425800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr22:29423600-29426000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr22:29423600-29426400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr22:29423800-29425800	Enhancers	Liver	Liver
25	chr22:29423800-29426000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:29423800-29426000	Enhancers	Duodenum Mucosa	Duodenum
27	chr22:29423800-29426200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:29424000-29426000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:29424000-29426400	Enhancers	Fetal Lung	lung
30	chr22:29424200-29426000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr22:29424200-29426000	Enhancers	Fetal Intestine Large	intestine
32	chr22:29424200-29426000	Enhancers	A549	lung
33	chr22:29424400-29425800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr22:29424400-29425800	Enhancers	K562	blood
35	chr22:29424400-29426000	Weak transcription	Colonic Mucosa	Colon
36	chr22:29424400-29426200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:29424400-29426400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:29424600-29426200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr22:29424600-29426200	Enhancers	Small Intestine	intestine
40	chr22:29424600-29426400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:29424600-29426600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:29424800-29425800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr22:29424800-29425800	Weak transcription	Fetal Kidney	kidney
44	chr22:29424800-29425800	Enhancers	HMEC	breast
45	chr22:29424800-29426000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:29424800-29426000	Enhancers	Brain Anterior Caudate	brain
47	chr22:29424800-29426000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:29424800-29426200	Enhancers	Psoas Muscle	Psoas
49	chr22:29424800-29426400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr22:29424800-29426400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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