Variant report

Variant	rs8178085
Chromosome Location	chr8:48810704-48810705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48809750..48812575-chr8:48815045..48817553,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10087517	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10097627	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10958450	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs15955	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17287635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279431	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3824124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45480301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45492298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45498198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45588533	1.00[EUR][1000 genomes]
rs7833492	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8178050	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8178118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9792194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
6	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
7	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv6179	chr8:48795179-48817295	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
3	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:48778800-48818200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr8:48778800-48818800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr8:48779400-48815800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:48780000-48822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48783800-48816200	Strong transcription	Liver	Liver
17	chr8:48784000-48816400	Strong transcription	Fetal Muscle Leg	muscle
18	chr8:48784000-48818600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:48784800-48817400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr8:48785400-48817800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr8:48785400-48819600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr8:48785400-48826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:48785400-48833000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:48785600-48813200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr8:48785600-48819200	Strong transcription	Placenta	Placenta
27	chr8:48785600-48819400	Strong transcription	Osteobl	bone
28	chr8:48785800-48822200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:48785800-48832000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:48786000-48814600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:48786000-48818000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:48786400-48833000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:48786600-48816800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:48788400-48817600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:48793800-48818200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:48793800-48819200	Strong transcription	Fetal Intestine Large	intestine
37	chr8:48793800-48819400	Strong transcription	Thymus	Thymus
38	chr8:48793800-48822200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:48793800-48822600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:48793800-48832200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:48793800-48870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:48793800-48870800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:48794200-48818400	Strong transcription	Primary T cells from cord blood	blood
44	chr8:48794600-48816600	Strong transcription	NHEK	skin
45	chr8:48794800-48816800	Strong transcription	Left Ventricle	heart
46	chr8:48798000-48825200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr8:48799200-48818800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:48799200-48832000	Strong transcription	Primary B cells from cord blood	blood
49	chr8:48799400-48816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:48800200-48816600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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