Variant report

Variant	rs12334947
Chromosome Location	chr8:125657466-125657467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125643150..125645424-chr8:125657174..125658686,2	K562	blood:
2	chr8:125648736..125650497-chr8:125657454..125659913,2	MCF-7	breast:
3	chr8:125653729..125655984-chr8:125656815..125658941,3	K562	blood:
4	chr8:125642370..125644650-chr8:125657174..125658829,2	K562	blood:
5	chr8:125647705..125651624-chr8:125656720..125658741,4	K562	blood:
6	chr8:125649125..125655229-chr8:125655458..125659458,6	K562	blood:
7	chr8:125657106..125660493-chr8:125825851..125829394,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10086001	0.88[AFR][1000 genomes]
rs10094021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110414	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984556	1.00[AMR][1000 genomes]
rs7011616	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
4	chr8:125645800-125657600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:125646400-125657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:125646400-125657800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr8:125646600-125658000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:125646600-125658600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:125646800-125658000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:125649800-125660200	Weak transcription	Right Ventricle	heart
12	chr8:125649800-125662800	Weak transcription	Pancreas	Pancrea
13	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
16	chr8:125650800-125660600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:125651000-125660200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:125651400-125663400	Weak transcription	Placenta	Placenta
19	chr8:125652200-125658200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:125653200-125658400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:125653800-125661200	Weak transcription	Brain Substantia Nigra	brain
22	chr8:125654000-125661000	Weak transcription	Psoas Muscle	Psoas
23	chr8:125654000-125666800	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:125654600-125658600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:125654800-125657800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:125654800-125660200	Weak transcription	Brain Anterior Caudate	brain
27	chr8:125655000-125661000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:125655000-125666800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:125655000-125672200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:125655200-125660000	Weak transcription	Left Ventricle	heart
31	chr8:125655200-125660200	Weak transcription	Spleen	Spleen
32	chr8:125655200-125661400	Weak transcription	Right Atrium	heart
33	chr8:125655200-125666400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:125655200-125667400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:125655200-125667400	Weak transcription	NHDF-Ad	bronchial
36	chr8:125655400-125661600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:125655600-125663000	Weak transcription	Stomach Mucosa	stomach
38	chr8:125655800-125661400	Weak transcription	Lung	lung
39	chr8:125656000-125659000	Enhancers	Fetal Heart	heart
40	chr8:125656400-125657600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:125656400-125660000	Weak transcription	Brain Angular Gyrus	brain
42	chr8:125656400-125661800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:125656600-125657600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:125656600-125661400	Weak transcription	Adipose Nuclei	Adipose
45	chr8:125656800-125658000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:125656800-125660400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:125656800-125660600	Enhancers	Primary B cells from cord blood	blood
48	chr8:125656800-125666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:125656800-125666200	Weak transcription	HMEC	breast
50	chr8:125657000-125657800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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