Variant report

Variant	rs13251871
Chromosome Location	chr8:48804108-48804109
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48800554..48803077-chr8:48803975..48806027,3	K562	blood:
2	chr8:48803324..48804836-chr8:48807142..48809364,2	K562	blood:

Variant related genes	Relation type
ENSG00000211562	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10091017	0.81[AMR][1000 genomes]
rs10097508	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10097783	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10106778	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10481294	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12156246	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334811	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1551655	0.84[AMR][1000 genomes]
rs1894311	0.94[AMR][1000 genomes]
rs28485144	0.83[EUR][1000 genomes]
rs28578331	0.89[AMR][1000 genomes]
rs4618724	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4873266	0.94[AMR][1000 genomes]
rs4873728	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873737	0.83[EUR][1000 genomes]
rs4873770	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873771	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4873773	0.94[AMR][1000 genomes]
rs6993483	0.85[EUR][1000 genomes]
rs7014544	0.83[EUR][1000 genomes]
rs72633911	0.87[AMR][1000 genomes]
rs72647906	0.80[EUR][1000 genomes]
rs72647908	0.95[EUR][1000 genomes]
rs72647909	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72647913	0.97[EUR][1000 genomes]
rs72647914	0.92[EUR][1000 genomes]
rs72647916	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72647918	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72647922	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7830743	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7839407	0.85[EUR][1000 genomes]
rs8178016	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8178079	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8178095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8178097	0.95[EUR][1000 genomes]
rs8178158	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8178169	0.87[EUR][1000 genomes]
rs9657054	0.81[AMR][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	chr8:48751400-48805800	Strong transcription	Fetal Lung	lung
10	chr8:48759800-48808400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:48778800-48808200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:48778800-48818200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr8:48778800-48818800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:48779400-48808200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr8:48779400-48815800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:48780000-48822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:48783800-48816200	Strong transcription	Liver	Liver
21	chr8:48784000-48816400	Strong transcription	Fetal Muscle Leg	muscle
22	chr8:48784000-48818600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:48784800-48817400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr8:48785400-48805800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr8:48785400-48807000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:48785400-48808400	Strong transcription	A549	lung
28	chr8:48785400-48817800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:48785400-48819600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr8:48785400-48826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:48785400-48833000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:48785600-48813200	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr8:48785600-48819200	Strong transcription	Placenta	Placenta
34	chr8:48785600-48819400	Strong transcription	Osteobl	bone
35	chr8:48785800-48808000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:48785800-48808200	Strong transcription	Hela-S3	cervix
37	chr8:48785800-48822200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:48785800-48832000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:48786000-48814600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:48786000-48818000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:48786400-48833000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:48786600-48816800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:48787000-48807400	Strong transcription	HSMM	muscle
44	chr8:48787200-48804200	Strong transcription	HMEC	breast
45	chr8:48788400-48817600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:48789000-48808400	Strong transcription	HepG2	liver
47	chr8:48789400-48805800	Strong transcription	K562	blood
48	chr8:48789800-48808400	Strong transcription	Brain Germinal Matrix	brain
49	chr8:48791800-48809400	Strong transcription	Spleen	Spleen
50	chr8:48792000-48808400	Strong transcription	Lung	lung

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