Variant report

Variant	rs41495348
Chromosome Location	chr7:21548961-21548962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21398064..21400234-chr7:21547452..21549542,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10269168	0.85[ASN][1000 genomes]
rs10272006	0.85[MEX][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11971316	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11983472	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668354	0.84[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12672629	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12673975	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2158414	0.81[ASN][1000 genomes]
rs2282888	0.81[MEX][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs2390539	0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28541530	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3735440	0.90[MEX][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40245	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4397283	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4722031	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6461561	0.84[MEX][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6461562	0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6461565	0.84[MEX][hapmap]
rs6461567	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6461568	1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6948810	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6974974	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6978922	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7780553	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7781732	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7796796	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7798894	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7810841	0.87[AMR][1000 genomes]
rs9639377	0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9639378	1.00[YRI][hapmap];0.86[AFR][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:65 , 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	chr7:21533400-21550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:21533600-21549800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:21536600-21549400	Weak transcription	Left Ventricle	heart
10	chr7:21536600-21550000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:21536600-21550600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:21536600-21557000	Weak transcription	Psoas Muscle	Psoas
13	chr7:21536800-21550800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:21536800-21550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:21536800-21552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:21537400-21549000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:21538800-21555000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:21539200-21552600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:21539600-21554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:21539600-21555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:21539800-21551600	Strong transcription	Primary B cells from cord blood	blood
22	chr7:21540600-21550800	Weak transcription	Fetal Lung	lung
23	chr7:21540600-21551600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:21540600-21554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:21540800-21551400	Weak transcription	Brain Anterior Caudate	brain
26	chr7:21541000-21554800	Weak transcription	Lung	lung
27	chr7:21542000-21551200	Weak transcription	Fetal Kidney	kidney
28	chr7:21542200-21552200	Weak transcription	Adipose Nuclei	Adipose
29	chr7:21544200-21550200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:21544600-21549400	Weak transcription	Pancreas	Pancrea
31	chr7:21545000-21550400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:21545200-21549400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr7:21545400-21550600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:21545400-21552600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:21545800-21549600	ZNF genes & repeats	Dnd41	blood
36	chr7:21545800-21550400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:21546000-21552200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:21546200-21550600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:21546200-21552000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:21546800-21550800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:21546800-21553800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr7:21547000-21549200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:21547000-21551600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:21547400-21550000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:21547800-21552000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:21547800-21554000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:21548000-21550800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:21548000-21550800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:21548000-21552600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:21548200-21549200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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