Variant report

Variant	rs60614607
Chromosome Location	chr7:69228143-69228144
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	chr4:100993641..100994147-chr7:69228084..69228959,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57241243	0.88[AFR][1000 genomes]
rs59534094	0.88[AFR][1000 genomes]
rs73429443	0.82[AFR][1000 genomes]
rs73429444	0.82[AFR][1000 genomes]
rs73429445	0.82[AFR][1000 genomes]
rs73429447	0.82[AFR][1000 genomes]
rs73429449	0.82[AFR][1000 genomes]
rs73438128	0.89[AFR][1000 genomes]
rs73438151	0.89[AFR][1000 genomes]
rs73438181	0.88[AFR][1000 genomes]
rs73438192	0.88[AFR][1000 genomes]
rs73439049	0.82[AFR][1000 genomes]
rs73439053	0.82[AFR][1000 genomes]
rs73440124	0.82[AFR][1000 genomes]
rs73440130	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69217400-69237400	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:69219200-69233600	Weak transcription	Left Ventricle	heart
3	chr7:69219600-69229400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:69221400-69228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:69221800-69229600	Weak transcription	Fetal Brain Male	brain
6	chr7:69223200-69229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:69223200-69234000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:69223400-69228400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:69223400-69228800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:69223400-69229000	Weak transcription	Ovary	ovary
11	chr7:69223400-69234000	Weak transcription	Brain Anterior Caudate	brain
12	chr7:69223600-69228800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:69223800-69233800	Weak transcription	Fetal Lung	lung
14	chr7:69224200-69228600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:69224200-69229200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:69224200-69234400	Weak transcription	Fetal Brain Female	brain
17	chr7:69225200-69238800	Weak transcription	Primary B cells from cord blood	blood
18	chr7:69226400-69228200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:69226600-69228400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:69226600-69229400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:69226800-69228800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:69226800-69234000	Weak transcription	Brain Germinal Matrix	brain
23	chr7:69226800-69234400	Weak transcription	Fetal Stomach	stomach
24	chr7:69227000-69229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:69227200-69237000	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:69227400-69228800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:69227400-69228800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:69227400-69228800	Enhancers	NHEK	skin
29	chr7:69227400-69230800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:69227600-69229000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:69227600-69231000	Enhancers	GM12878-XiMat	blood
32	chr7:69227600-69233600	Weak transcription	Brain Substantia Nigra	brain
33	chr7:69227800-69228200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:69227800-69230600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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