Variant report

Variant	rs7011801
Chromosome Location	chr8:61656511-61656512
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10092214	1.00[YRI][hapmap]
rs10104525	0.81[AMR][1000 genomes]
rs10106752	0.96[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1017861	0.96[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1017862	0.96[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10283352	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12680437	1.00[YRI][hapmap]
rs13253647	1.00[YRI][hapmap]
rs13264416	0.86[AMR][1000 genomes]
rs13280978	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473446	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1483208	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826359	1.00[YRI][hapmap]
rs2056415	1.00[YRI][hapmap]
rs2326569	1.00[YRI][hapmap]
rs2326570	1.00[YRI][hapmap]
rs2326571	1.00[YRI][hapmap]
rs2680297	1.00[YRI][hapmap]
rs28600309	0.80[AMR][1000 genomes]
rs28609390	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28710955	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2946154	1.00[YRI][hapmap]
rs35168272	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35331770	0.82[AMR][1000 genomes]
rs3814483	1.00[YRI][hapmap]
rs4237036	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4288413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4738813	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs4738816	0.87[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs4738817	1.00[YRI][hapmap]
rs4738826	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4738828	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4738829	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs617834	1.00[YRI][hapmap]
rs652422	1.00[YRI][hapmap]
rs671204	1.00[YRI][hapmap]
rs7013249	1.00[YRI][hapmap]
rs7822621	1.00[YRI][hapmap]
rs876957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900503	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs900504	1.00[YRI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:61644200-61659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:61644800-61659400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:61648800-61656600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:61648800-61663800	Weak transcription	HUVEC	blood vessel
6	chr8:61649000-61663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:61649200-61660800	Weak transcription	Small Intestine	intestine
8	chr8:61651600-61657000	Enhancers	Brain Substantia Nigra	brain
9	chr8:61651600-61664600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:61651800-61656600	Weak transcription	Right Atrium	heart
11	chr8:61652000-61663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:61653200-61663400	Weak transcription	Fetal Brain Female	brain
13	chr8:61653600-61656600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:61653600-61656600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:61653800-61656800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:61653800-61657000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:61653800-61657400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:61653800-61658600	Strong transcription	Primary B cells from cord blood	blood
19	chr8:61654000-61658200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:61654600-61656600	Weak transcription	Psoas Muscle	Psoas
21	chr8:61654800-61656600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:61655000-61660200	Weak transcription	K562	blood
23	chr8:61655000-61664800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:61655000-61665400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:61655200-61656800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:61655200-61657200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:61655400-61657000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:61655400-61657000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:61655400-61657000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:61655400-61658400	Enhancers	Brain Hippocampus Middle	brain
31	chr8:61655400-61659400	Weak transcription	NH-A	brain
32	chr8:61655400-61660200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:61655600-61656600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:61655600-61656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:61655600-61656600	Weak transcription	Adipose Nuclei	Adipose
36	chr8:61655600-61656600	Weak transcription	Brain Anterior Caudate	brain
37	chr8:61655600-61656600	Weak transcription	Left Ventricle	heart
38	chr8:61655600-61656600	Weak transcription	Pancreas	Pancrea
39	chr8:61655600-61656600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:61655600-61656600	Weak transcription	HMEC	breast
41	chr8:61655600-61657000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:61655600-61657000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:61655600-61657000	Weak transcription	Placenta	Placenta
44	chr8:61655600-61657400	Weak transcription	Colonic Mucosa	Colon
45	chr8:61655600-61657800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:61655600-61660200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr8:61655600-61663400	Weak transcription	Dnd41	blood
48	chr8:61655600-61663800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:61655600-61663800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:61655600-61664000	Weak transcription	HSMMtube	muscle

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