Variant report

Variant	rs9478130
Chromosome Location	chr6:151052253-151052254
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	chr6:150993621..150995744-chr6:151052109..151054266,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10080992	1.00[AMR][1000 genomes]
rs6925636	1.00[AMR][1000 genomes]
rs9478131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478813	1.00[AMR][1000 genomes]
rs9478818	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019919	chr6:151028969-151161789	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv538474	chr6:151028969-151161789	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151035000-151066400	Weak transcription	Right Ventricle	heart
2	chr6:151039000-151058800	Weak transcription	Gastric	stomach
3	chr6:151040000-151055800	Weak transcription	HUVEC	blood vessel
4	chr6:151042400-151054400	Weak transcription	Placenta	Placenta
5	chr6:151042400-151074800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:151042600-151085400	Weak transcription	Esophagus	oesophagus
7	chr6:151042800-151054800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:151044400-151055400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:151045000-151054800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:151045000-151055200	Weak transcription	Fetal Kidney	kidney
11	chr6:151045200-151054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:151045200-151054800	Weak transcription	Ovary	ovary
13	chr6:151045200-151061000	Weak transcription	Brain Anterior Caudate	brain
14	chr6:151045400-151053800	Weak transcription	Fetal Stomach	stomach
15	chr6:151045400-151054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:151045400-151059400	Weak transcription	Fetal Lung	lung
17	chr6:151046200-151055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:151046800-151054800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:151046800-151061200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:151047000-151061000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:151047400-151054800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:151048200-151054600	Strong transcription	Primary B cells from cord blood	blood
23	chr6:151048400-151054800	Weak transcription	Colonic Mucosa	Colon
24	chr6:151048800-151054600	Weak transcription	Primary T cells from cord blood	blood
25	chr6:151049000-151059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:151049200-151060400	Weak transcription	Brain Substantia Nigra	brain
27	chr6:151050600-151052600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:151050600-151053600	Weak transcription	Fetal Thymus	thymus
29	chr6:151050600-151054800	Weak transcription	Left Ventricle	heart
30	chr6:151050600-151058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:151050800-151054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:151051000-151054200	Weak transcription	Thymus	Thymus
33	chr6:151051000-151054800	Weak transcription	Adipose Nuclei	Adipose
34	chr6:151051000-151054800	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:151051400-151052400	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr6:151051600-151052600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:151051800-151054800	Weak transcription	Lung	lung
38	chr6:151052000-151052400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr6:151052000-151053600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:151052200-151052400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr6:151052200-151052400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:151052200-151052400	Enhancers	Spleen	Spleen
43	chr6:151052200-151054600	Weak transcription	Rectal Mucosa Donor 31	rectum

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