Variant report

Variant	rs55672935
Chromosome Location	chr7:21552405-21552406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21464898..21467027-chr7:21551635..21554348,2	K562	blood:
2	chr7:21551515..21553492-chr7:21556028..21557706,2	K562	blood:
3	chr7:21551132..21552664-chr7:21556753..21558534,2	MCF-7	breast:
4	chr7:21550742..21552749-chr7:21554264..21556161,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11508471	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237304	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2237305	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2282893	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55844648	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59497715	0.81[ASN][1000 genomes]
rs62439716	0.86[EUR][1000 genomes]
rs62439717	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6461570	0.82[ASN][1000 genomes]
rs6943809	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6954187	0.82[ASN][1000 genomes]
rs6974789	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6976865	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7790804	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1030577	chr7:21548909-21681379	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS 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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
2	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:21536600-21557000	Weak transcription	Psoas Muscle	Psoas
8	chr7:21536800-21552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:21538800-21555000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:21539200-21552600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:21539600-21554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:21539600-21555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:21540600-21554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:21541000-21554800	Weak transcription	Lung	lung
15	chr7:21545400-21552600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:21546800-21553800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr7:21547800-21554000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:21548000-21552600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:21548400-21552600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:21548400-21553200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:21548400-21556600	Weak transcription	Thymus	Thymus
22	chr7:21548600-21552600	Weak transcription	Ovary	ovary
23	chr7:21549000-21556400	Weak transcription	Primary T cells from cord blood	blood
24	chr7:21549400-21554800	Weak transcription	Fetal Brain Female	brain
25	chr7:21549800-21553000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:21550800-21555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:21551000-21552600	Weak transcription	Fetal Thymus	thymus
28	chr7:21551000-21552600	Weak transcription	Left Ventricle	heart
29	chr7:21551000-21553200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:21551200-21552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:21551200-21553000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:21551200-21553600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:21551400-21553000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr7:21551400-21553400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:21551400-21555800	Weak transcription	GM12878-XiMat	blood
36	chr7:21551600-21553200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:21551600-21553200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:21551600-21553200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:21551600-21553200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:21551600-21553200	Weak transcription	Dnd41	blood
41	chr7:21551600-21553400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:21551600-21554600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:21551600-21555000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:21551600-21555200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:21551600-21555400	Weak transcription	Primary B cells from cord blood	blood
46	chr7:21551600-21556400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:21551600-21556400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:21551800-21553400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:21551800-21553400	Weak transcription	Brain Anterior Caudate	brain
50	chr7:21551800-21553600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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