Variant report

Variant	rs6976590
Chromosome Location	chr7:21944119-21944120
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	chr7:21942463..21944714-chr7:21945187..21946928,2	K562	blood:

Variant related genes	Relation type
ENSG00000164649	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10238697	0.85[EUR][1000 genomes]
rs17145720	1.00[CEU][hapmap]
rs62445887	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6958820	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279884	0.85[EUR][1000 genomes]
rs73279886	0.93[EUR][1000 genomes]
rs73281732	0.85[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:115 , 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	chr7:21932600-21951000	Weak transcription	HSMM	muscle
3	chr7:21933000-21963200	Weak transcription	A549	lung
4	chr7:21934000-21950400	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:21934200-21951600	Weak transcription	Fetal Brain Male	brain
6	chr7:21936600-21956400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:21936600-21956600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:21936800-21945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:21936800-21945200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:21937000-21952200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:21937000-21956400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:21937200-21956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:21937400-21950800	Weak transcription	Right Atrium	heart
14	chr7:21937400-21956000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:21937600-21952000	Weak transcription	Psoas Muscle	Psoas
16	chr7:21937600-21952800	Strong transcription	Thymus	Thymus
17	chr7:21937600-21956200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:21937600-21956400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:21937800-21947800	Strong transcription	NHEK	skin
20	chr7:21937800-21950200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr7:21937800-21950600	Strong transcription	Fetal Stomach	stomach
22	chr7:21937800-21954000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:21937800-21956000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr7:21937800-21956200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:21938000-21949600	Strong transcription	Fetal Muscle Leg	muscle
26	chr7:21938000-21955000	Weak transcription	Stomach Mucosa	stomach
27	chr7:21938000-21956200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr7:21938200-21949200	Strong transcription	Hela-S3	cervix
29	chr7:21938200-21950000	Weak transcription	Small Intestine	intestine
30	chr7:21938400-21945400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:21938400-21948600	Strong transcription	Rectal Smooth Muscle	rectum
32	chr7:21938400-21949000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr7:21938400-21950200	Strong transcription	Ovary	ovary
34	chr7:21938600-21945200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:21938600-21947200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:21938600-21948800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:21938600-21950600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:21938600-21984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:21938800-21944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:21938800-21946400	Strong transcription	Gastric	stomach
41	chr7:21938800-21952200	Strong transcription	Primary B cells from cord blood	blood
42	chr7:21938800-21952200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:21938800-21953200	Strong transcription	Fetal Thymus	thymus
44	chr7:21938800-21956600	Strong transcription	Primary T cells from cord blood	blood
45	chr7:21939000-21944400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:21939000-21945200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:21939000-21946200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:21939000-21948400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:21939000-21952000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:21939200-21945600	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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