Variant report

Variant	rs10510752
Chromosome Location	chr3:47061453-47061454
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	chr3:47056274..47058537-chr3:47060198..47062486,2	K562	blood:
2	chr3:47051592..47055905-chr3:47059567..47061970,4	K562	blood:

Variant related genes	Relation type
ENSG00000236409	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11708257	1.00[CHB][hapmap]
rs62246360	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62248423	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62248424	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62248896	1.00[AFR][1000 genomes]
rs936181	1.00[CHB][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	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS 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	79 gene(s)	inside rSNPs	diseases
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47050200-47063800	Weak transcription	Stomach Mucosa	stomach
2	chr3:47051400-47064000	Weak transcription	Small Intestine	intestine
3	chr3:47051800-47061600	Weak transcription	Right Atrium	heart
4	chr3:47051800-47062000	Weak transcription	Psoas Muscle	Psoas
5	chr3:47052000-47062200	Strong transcription	Fetal Stomach	stomach
6	chr3:47053200-47062400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr3:47053400-47062200	Strong transcription	Fetal Muscle Leg	muscle
8	chr3:47054000-47061800	Strong transcription	Placenta	Placenta
9	chr3:47054200-47061600	Genic enhancers	Fetal Intestine Small	intestine
10	chr3:47054200-47062400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:47054400-47062000	Strong transcription	Adipose Nuclei	Adipose
12	chr3:47054600-47062800	Strong transcription	Fetal Brain Female	brain
13	chr3:47055000-47061600	Strong transcription	Brain Hippocampus Middle	brain
14	chr3:47055000-47062000	Strong transcription	Brain Cingulate Gyrus	brain
15	chr3:47055000-47062400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:47055400-47061800	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr3:47055400-47062200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:47055400-47063000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:47055600-47061600	Strong transcription	Left Ventricle	heart
20	chr3:47055600-47061800	Strong transcription	Brain Angular Gyrus	brain
21	chr3:47055600-47062000	Strong transcription	Brain Substantia Nigra	brain
22	chr3:47055600-47062000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr3:47056400-47061800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:47056600-47062200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:47056800-47061800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:47056800-47062000	Strong transcription	Fetal Lung	lung
27	chr3:47056800-47062400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:47057200-47066600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:47057800-47062200	Strong transcription	Aorta	Aorta
30	chr3:47057800-47062200	Strong transcription	Fetal Kidney	kidney
31	chr3:47058000-47062000	Strong transcription	Brain Anterior Caudate	brain
32	chr3:47058000-47062000	Genic enhancers	HepG2	liver
33	chr3:47058000-47062400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:47058200-47062200	Strong transcription	Brain Germinal Matrix	brain
35	chr3:47058200-47062200	Strong transcription	Colonic Mucosa	Colon
36	chr3:47058200-47062200	Genic enhancers	GM12878-XiMat	blood
37	chr3:47058200-47063000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr3:47058400-47061600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:47058400-47061800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:47058600-47062200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:47058800-47069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:47059000-47062000	Strong transcription	A549	lung
43	chr3:47059200-47061600	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:47059200-47062000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:47059200-47062000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:47059400-47062000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr3:47059400-47062200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:47059400-47062200	Strong transcription	NHLF	lung
49	chr3:47059400-47066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:47059400-47066400	Strong transcription	Primary T cells from cord blood	blood

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