Variant report

Variant	rs739197
Chromosome Location	chr22:29356499-29356500
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	chr22:29353102..29355406-chr22:29355625..29358166,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs132530	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs132541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs132547	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs132550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs132556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16986909	0.85[CHB][hapmap]
rs469988	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs5752844	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5762916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762924	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs5762935	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs713892	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[EUR][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29346400-29357400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29348200-29365000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:29348800-29360400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr22:29349200-29356800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:29349200-29365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:29349200-29371800	Weak transcription	HSMM	muscle
8	chr22:29349400-29357200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:29349400-29357400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:29349400-29357400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:29349600-29357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:29349600-29359600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:29349800-29360400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:29350000-29358400	Weak transcription	Fetal Lung	lung
15	chr22:29350000-29363000	Weak transcription	Liver	Liver
16	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
17	chr22:29350200-29357800	Weak transcription	K562	blood
18	chr22:29350400-29361000	Weak transcription	Ovary	ovary
19	chr22:29350800-29357800	Weak transcription	HSMMtube	muscle
20	chr22:29351400-29362200	Genic enhancers	HepG2	liver
21	chr22:29352400-29359600	Weak transcription	Gastric	stomach
22	chr22:29352800-29360400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:29353000-29357200	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:29353000-29358200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:29353000-29358200	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:29353000-29359200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:29353200-29358000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:29353200-29358400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:29353400-29358400	Weak transcription	Brain Angular Gyrus	brain
30	chr22:29354400-29357600	Enhancers	Psoas Muscle	Psoas
31	chr22:29354800-29356600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr22:29354800-29360600	Weak transcription	Right Ventricle	heart
33	chr22:29354800-29364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr22:29354800-29365600	Weak transcription	Lung	lung
35	chr22:29355000-29358200	Weak transcription	Fetal Kidney	kidney
36	chr22:29355200-29356800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:29355200-29365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr22:29355400-29357600	Weak transcription	Brain Anterior Caudate	brain
39	chr22:29355400-29357600	Weak transcription	Brain Substantia Nigra	brain
40	chr22:29355400-29358400	Weak transcription	Left Ventricle	heart
41	chr22:29355400-29360400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:29355400-29360800	Weak transcription	Colon Smooth Muscle	Colon
43	chr22:29355400-29363600	Weak transcription	Fetal Stomach	stomach
44	chr22:29355400-29364800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:29355400-29365000	Weak transcription	Right Atrium	heart
46	chr22:29355400-29365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr22:29355600-29357400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:29355800-29357000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr22:29355800-29364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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