Variant report

Variant	rs6970450
Chromosome Location	chr7:21935438-21935439
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1139224	0.82[ASN][1000 genomes]
rs59756524	0.94[ASN][1000 genomes]
rs6461615	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21907400-21937200	Weak transcription	Fetal Thymus	thymus
2	chr7:21908400-21936600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:21910000-21939400	Weak transcription	Left Ventricle	heart
4	chr7:21911200-21938400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:21916800-21936600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:21917000-21936600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:21917000-21938400	Weak transcription	Fetal Intestine Small	intestine
8	chr7:21923000-21937800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:21923200-21938600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:21924000-21937600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:21924400-21937800	Weak transcription	NHEK	skin
12	chr7:21924400-21945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:21924800-21936400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:21926400-21937800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:21926600-21942600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:21926800-21937000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:21926800-21938000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:21926800-21939200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:21927800-21936600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:21927800-21937600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:21927800-21937800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:21927800-21938400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:21927800-21940200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:21928000-21936600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:21928000-21937200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:21928000-21942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:21928200-21937600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:21928200-21938600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:21928200-21939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:21928800-21938400	Weak transcription	NHDF-Ad	bronchial
31	chr7:21929200-21938000	Weak transcription	Fetal Lung	lung
32	chr7:21929600-21936400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:21929800-21938000	Weak transcription	Right Ventricle	heart
34	chr7:21930000-21937800	Weak transcription	Gastric	stomach
35	chr7:21930400-21937600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:21930800-21938400	Weak transcription	Esophagus	oesophagus
37	chr7:21931000-21942400	Weak transcription	Fetal Kidney	kidney
38	chr7:21931400-21937800	Weak transcription	Fetal Stomach	stomach
39	chr7:21932200-21937000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:21932600-21937800	Weak transcription	Fetal Heart	heart
41	chr7:21932600-21938000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:21932600-21938200	Weak transcription	Hela-S3	cervix
43	chr7:21932600-21938400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:21932600-21938400	Weak transcription	Brain Anterior Caudate	brain
45	chr7:21932600-21942000	Weak transcription	Brain Germinal Matrix	brain
46	chr7:21932600-21951000	Weak transcription	HSMM	muscle
47	chr7:21932800-21938800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:21933000-21963200	Weak transcription	A549	lung
49	chr7:21933600-21939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:21934000-21950400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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