Variant report

Variant	rs62445899
Chromosome Location	chr7:21940122-21940123
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21938917..21941313-chr7:21945922..21947681,2	K562	blood:
2	chr7:21938160..21940188-chr7:21943715..21946302,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164649	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11976832	0.85[EUR][1000 genomes]
rs17145802	0.85[EUR][1000 genomes]
rs62445889	0.92[EUR][1000 genomes]
rs62445891	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445892	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67401326	0.85[EUR][1000 genomes]
rs72658840	0.80[AFR][1000 genomes]
rs73279872	0.85[EUR][1000 genomes]
rs7778522	0.90[EUR][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21924400-21945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21926600-21942600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:21927800-21940200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:21928000-21942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:21931000-21942400	Weak transcription	Fetal Kidney	kidney
6	chr7:21932600-21942000	Weak transcription	Brain Germinal Matrix	brain
7	chr7:21932600-21951000	Weak transcription	HSMM	muscle
8	chr7:21933000-21963200	Weak transcription	A549	lung
9	chr7:21934000-21950400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:21934200-21951600	Weak transcription	Fetal Brain Male	brain
11	chr7:21935200-21942200	Weak transcription	HMEC	breast
12	chr7:21936400-21942400	Weak transcription	NH-A	brain
13	chr7:21936600-21942000	Weak transcription	HSMMtube	muscle
14	chr7:21936600-21956400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:21936600-21956600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:21936800-21945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:21936800-21945200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:21937000-21942200	Weak transcription	Brain Angular Gyrus	brain
19	chr7:21937000-21952200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:21937000-21956400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:21937200-21956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:21937400-21940800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:21937400-21950800	Weak transcription	Right Atrium	heart
24	chr7:21937400-21956000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:21937600-21940400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:21937600-21940800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr7:21937600-21941800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:21937600-21942400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:21937600-21952000	Weak transcription	Psoas Muscle	Psoas
30	chr7:21937600-21952800	Strong transcription	Thymus	Thymus
31	chr7:21937600-21956200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:21937600-21956400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:21937800-21940800	Weak transcription	Liver	Liver
34	chr7:21937800-21947800	Strong transcription	NHEK	skin
35	chr7:21937800-21950200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr7:21937800-21950600	Strong transcription	Fetal Stomach	stomach
37	chr7:21937800-21954000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:21937800-21956000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr7:21937800-21956200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:21938000-21940600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:21938000-21941000	Strong transcription	Pancreas	Pancrea
42	chr7:21938000-21941400	Strong transcription	Fetal Lung	lung
43	chr7:21938000-21942000	Strong transcription	HUVEC	blood vessel
44	chr7:21938000-21942200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:21938000-21942200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:21938000-21942400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:21938000-21949600	Strong transcription	Fetal Muscle Leg	muscle
48	chr7:21938000-21955000	Weak transcription	Stomach Mucosa	stomach
49	chr7:21938000-21956200	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr7:21938200-21940200	Weak transcription	Rectal Mucosa Donor 29	rectum

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