Variant report

Variant	rs13249982
Chromosome Location	chr8:126201685-126201686
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	chr8:126199463..126202263-chr8:126440373..126443128,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10094316	0.83[CHB][hapmap]
rs13253942	0.90[CEU][hapmap]
rs13254947	0.90[CEU][hapmap]
rs13259062	0.90[CEU][hapmap]
rs13266794	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	0.82[CEU][hapmap]
rs17310558	0.90[CEU][hapmap]
rs17401283	0.82[CEU][hapmap]
rs2384882	0.80[CEU][hapmap]
rs35114839	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35779726	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923300	0.82[CEU][hapmap]
rs4360308	0.82[CEU][hapmap]
rs4601329	0.90[CEU][hapmap]
rs6470338	0.83[CHB][hapmap]
rs6470339	0.83[CHB][hapmap]
rs6470341	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995096	0.83[CHB][hapmap]
rs7002224	0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7014707	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs73348187	0.83[AMR][1000 genomes]
rs7461756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7813225	0.83[CHB][hapmap]
rs7827336	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs868227	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv981979	chr8:126200290-126201826	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
2	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
5	chr8:126187400-126204000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:126187800-126202400	Weak transcription	HSMM	muscle
7	chr8:126189200-126203600	Weak transcription	Small Intestine	intestine
8	chr8:126189200-126204400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:126194200-126226000	Weak transcription	Ovary	ovary
10	chr8:126194400-126204000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:126197400-126203400	Weak transcription	Stomach Mucosa	stomach
12	chr8:126198800-126214000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:126199000-126203400	Weak transcription	K562	blood
14	chr8:126199400-126203600	ZNF genes & repeats	GM12878-XiMat	blood
15	chr8:126199600-126203800	Weak transcription	Fetal Heart	heart
16	chr8:126200200-126201800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr8:126200200-126201800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr8:126200200-126201800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:126200200-126201800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr8:126200200-126202000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:126200200-126202600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:126200200-126202800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:126200400-126201800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:126200400-126201800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:126200400-126201800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:126200400-126202000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr8:126200400-126202000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:126200400-126202000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr8:126200400-126202200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr8:126200400-126202200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr8:126200400-126202600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr8:126200400-126202800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:126200600-126201800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:126200600-126201800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:126200600-126201800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:126200600-126201800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:126200600-126201800	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr8:126200600-126202200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:126200800-126202000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr8:126200800-126202400	ZNF genes & repeats	A549	lung
41	chr8:126200800-126203000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:126200800-126203600	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:126200800-126216200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:126201000-126201800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr8:126201000-126201800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:126201000-126201800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:126201000-126201800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:126201000-126201800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:126201000-126201800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:126201000-126201800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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