Variant report

Variant	rs7291597
Chromosome Location	chr22:30311918-30311919
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	chr22:30305656..30307780-chr22:30310595..30312503,3	MCF-7	breast:
2	chr22:30298495..30301081-chr22:30311578..30313421,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs58158427	1.00[AFR][1000 genomes]
rs6006287	1.00[AFR][1000 genomes]
rs7284772	1.00[AFR][1000 genomes]
rs7286610	1.00[AFR][1000 genomes]
rs7287472	1.00[AFR][1000 genomes]
rs7287547	1.00[AFR][1000 genomes]
rs7289121	1.00[AFR][1000 genomes]
rs7290334	1.00[AFR][1000 genomes]
rs7290601	1.00[AFR][1000 genomes]
rs7290936	1.00[AFR][1000 genomes]
rs7291270	1.00[AFR][1000 genomes]
rs7291748	1.00[AFR][1000 genomes]
rs7291902	1.00[AFR][1000 genomes]
rs7292072	1.00[AFR][1000 genomes]
rs7293189	1.00[AFR][1000 genomes]
rs73162767	1.00[AFR][1000 genomes]
rs9754503	1.00[AFR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr22:30304200-30312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:30304400-30312000	Weak transcription	Fetal Kidney	kidney
7	chr22:30304400-30312400	Weak transcription	Brain Hippocampus Middle	brain
8	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:30304600-30312200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:30304800-30312400	Weak transcription	Brain Substantia Nigra	brain
11	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr22:30306600-30312200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr22:30307000-30314800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
16	chr22:30307800-30314200	Enhancers	Colon Smooth Muscle	Colon
17	chr22:30308000-30314400	Enhancers	NHDF-Ad	bronchial
18	chr22:30308000-30315600	Enhancers	Rectal Smooth Muscle	rectum
19	chr22:30308200-30312200	Enhancers	NHLF	lung
20	chr22:30308200-30313400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr22:30308200-30314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:30308400-30312400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:30308400-30312800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr22:30309000-30312000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr22:30309000-30312200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr22:30309000-30312400	Enhancers	NHEK	skin
27	chr22:30309000-30312600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:30309200-30312200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:30309200-30313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:30309200-30313200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr22:30309200-30317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
33	chr22:30309400-30312000	Weak transcription	Liver	Liver
34	chr22:30309400-30312800	Weak transcription	Brain Angular Gyrus	brain
35	chr22:30309400-30319600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr22:30309600-30312200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:30309800-30312200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr22:30310000-30312200	Weak transcription	Right Ventricle	heart
39	chr22:30310000-30313200	Weak transcription	Left Ventricle	heart
40	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr22:30310200-30312600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:30310200-30319400	Weak transcription	Right Atrium	heart
43	chr22:30310200-30321000	Weak transcription	Lung	lung
44	chr22:30310400-30312200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:30310400-30312200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:30310400-30312200	Weak transcription	Brain Anterior Caudate	brain
47	chr22:30310400-30312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:30310400-30312600	Weak transcription	Brain Germinal Matrix	brain
49	chr22:30310400-30313400	Weak transcription	Fetal Muscle Leg	muscle
50	chr22:30310400-30314600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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