Variant report

Variant	rs6471904
Chromosome Location	chr8:61746422-61746423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61744951..61747188-chr8:61749235..61750993,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10088263	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1038353	0.83[AMR][1000 genomes]
rs10957159	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10957160	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13255052	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13278198	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2326597	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35149496	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35254359	0.85[AMR][1000 genomes]
rs35687554	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471900	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67670110	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987611	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6988835	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6989150	1.00[CEU][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6994642	0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7823926	0.88[CEU][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833957	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7846314	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61705800-61755000	Weak transcription	Psoas Muscle	Psoas
2	chr8:61718200-61749400	Weak transcription	Fetal Kidney	kidney
3	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:61720800-61752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:61726800-61749600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:61728200-61749000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:61728800-61749400	Weak transcription	Small Intestine	intestine
8	chr8:61729200-61751600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:61731800-61751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:61732000-61752000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:61733200-61750800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:61736400-61752600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:61737400-61747400	Weak transcription	Fetal Brain Male	brain
14	chr8:61737800-61760800	Weak transcription	Stomach Mucosa	stomach
15	chr8:61739400-61755400	Weak transcription	Esophagus	oesophagus
16	chr8:61740400-61780200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:61740600-61765000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:61741000-61748400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:61741000-61750800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:61741200-61750000	Weak transcription	Brain Angular Gyrus	brain
21	chr8:61741200-61760200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:61741200-61763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:61741200-61770600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:61741400-61748800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:61741400-61751800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:61741400-61752600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:61741400-61761800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:61741400-61762200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:61741400-61764600	Weak transcription	Osteobl	bone
30	chr8:61741600-61748800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:61741600-61762400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:61741800-61751200	Strong transcription	Primary T cells from cord blood	blood
33	chr8:61741800-61777600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:61741800-61780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:61742000-61750800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:61742200-61778800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:61742800-61751200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:61743000-61746600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:61743000-61757400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:61743200-61750000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:61743400-61748600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:61743400-61748600	Weak transcription	Fetal Lung	lung
43	chr8:61743400-61749400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:61743400-61750800	Weak transcription	Aorta	Aorta
45	chr8:61743400-61753600	Weak transcription	Spleen	Spleen
46	chr8:61743400-61777400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:61743600-61748600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:61743600-61748800	Weak transcription	HMEC	breast
49	chr8:61743600-61749400	Weak transcription	HUVEC	blood vessel
50	chr8:61743600-61750800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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