Variant report

Variant	rs10271408
Chromosome Location	chr7:4690712-4690713
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4689179..4692625-chr7:4694624..4697928,3	K562	blood:
2	chr7:4680965..4683900-chr7:4690085..4692263,2	K562	blood:
3	chr7:4680965..4686174-chr7:4688845..4692263,7	K562	blood:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10269969	1.00[AFR][1000 genomes]
rs28415414	1.00[AFR][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	nsv887374	chr7:4469845-4691867	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	esv2758101	chr7:4592615-4746651	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2759503	chr7:4592615-4746651	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4689600-4692200	Enhancers	Fetal Intestine Large	intestine
2	chr7:4689600-4692400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:4689800-4690800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:4689800-4691200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:4689800-4691200	Enhancers	Fetal Lung	lung
6	chr7:4689800-4691400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:4689800-4692200	Enhancers	Fetal Intestine Small	intestine
8	chr7:4689800-4692200	Enhancers	Fetal Stomach	stomach
9	chr7:4690000-4690800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:4690000-4690800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:4690000-4690800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:4690000-4690800	Enhancers	Placenta	Placenta
13	chr7:4690000-4691000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:4690000-4691000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:4690000-4691000	Enhancers	Brain Substantia Nigra	brain
16	chr7:4690000-4691000	Enhancers	Fetal Heart	heart
17	chr7:4690000-4691000	Enhancers	Fetal Muscle Leg	muscle
18	chr7:4690000-4691000	Flanking Active TSS	HepG2	liver
19	chr7:4690000-4691200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:4690000-4691200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:4690000-4691200	Enhancers	Brain Hippocampus Middle	brain
22	chr7:4690000-4691200	Enhancers	Fetal Brain Male	brain
23	chr7:4690000-4691200	Enhancers	Fetal Brain Female	brain
24	chr7:4690000-4691200	Enhancers	Fetal Muscle Trunk	muscle
25	chr7:4690000-4691400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:4690000-4692000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:4690000-4692000	Enhancers	Ovary	ovary
28	chr7:4690200-4690800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:4690200-4690800	Enhancers	Brain Angular Gyrus	brain
30	chr7:4690200-4690800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr7:4690200-4690800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:4690200-4690800	Enhancers	Colonic Mucosa	Colon
33	chr7:4690200-4690800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr7:4690200-4690800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr7:4690200-4690800	Enhancers	NHDF-Ad	bronchial
36	chr7:4690200-4691000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:4690200-4691000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:4690200-4691000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr7:4690200-4691000	Enhancers	NH-A	brain
40	chr7:4690200-4691200	Enhancers	Brain Germinal Matrix	brain
41	chr7:4690200-4691200	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:4690200-4696400	Weak transcription	Right Ventricle	heart
43	chr7:4690400-4690800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr7:4690400-4691200	Enhancers	Brain Anterior Caudate	brain
45	chr7:4690400-4692200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:4690600-4690800	Enhancers	Fetal Kidney	kidney
47	chr7:4690600-4690800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:4690600-4691000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:4690600-4691200	Enhancers	A549	lung
50	chr7:4690600-4701600	Weak transcription	Right Atrium	heart

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