Variant report

Variant	rs573070405
Chromosome Location	chr7:124463382-124463383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr7:124445000-124463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124450800-124467000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:124451400-124463600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:124451600-124466600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:124452800-124475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:124454600-124463800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:124454600-124501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:124457600-124497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:124458800-124463600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:124459000-124463600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:124459000-124463800	Weak transcription	Left Ventricle	heart
13	chr7:124459000-124463800	Weak transcription	GM12878-XiMat	blood
14	chr7:124459000-124497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:124459200-124467600	Weak transcription	Esophagus	oesophagus
16	chr7:124459200-124469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:124459200-124497600	Weak transcription	Pancreas	Pancrea
18	chr7:124459200-124499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:124459400-124497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:124459400-124497600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:124460200-124463800	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:124460200-124463800	Weak transcription	HUVEC	blood vessel
23	chr7:124460200-124465800	Weak transcription	NH-A	brain
24	chr7:124460200-124466000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:124460200-124483400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:124460400-124488600	Weak transcription	HSMMtube	muscle
27	chr7:124460600-124463800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:124460600-124486200	Weak transcription	Brain Substantia Nigra	brain
29	chr7:124460800-124476200	Weak transcription	Fetal Brain Male	brain
30	chr7:124461000-124499200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:124461000-124499600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:124461200-124463800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:124461200-124465800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:124461400-124463400	Weak transcription	Placenta	Placenta
35	chr7:124461400-124463600	Weak transcription	Fetal Kidney	kidney
36	chr7:124461400-124463800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:124461400-124463800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
39	chr7:124461600-124464400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:124461600-124466600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:124461600-124466800	Strong transcription	Liver	Liver
42	chr7:124461600-124467200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:124461600-124467800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:124461600-124467800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:124461600-124490600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:124461600-124493400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:124461600-124499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:124461800-124463400	Weak transcription	Osteobl	bone
49	chr7:124461800-124466600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:124461800-124466600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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