Variant report

Variant	rs4653674
Chromosome Location	chr1:225963665-225963666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10915873	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1557092	0.87[CEU][hapmap]
rs4653432	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653670	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6659660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6685014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225952200-225964400	Weak transcription	Fetal Brain Female	brain
2	chr1:225952200-225965600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:225954800-225964400	Weak transcription	Small Intestine	intestine
4	chr1:225956800-225964600	Weak transcription	Right Ventricle	heart
5	chr1:225957000-225965000	Weak transcription	Gastric	stomach
6	chr1:225958600-225964800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:225959200-225964600	Weak transcription	Psoas Muscle	Psoas
8	chr1:225959200-225964800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:225959600-225964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:225959600-225964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:225959800-225964400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:225960000-225964600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:225960000-225964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:225960200-225964200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:225960200-225964400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:225960200-225964800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:225960400-225963800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:225960400-225964200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:225960400-225964400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:225960400-225964400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:225960400-225964400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:225960400-225964400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:225960400-225964400	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:225960400-225964400	Weak transcription	HUVEC	blood vessel
25	chr1:225960400-225964400	Weak transcription	NHDF-Ad	bronchial
26	chr1:225960400-225964600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:225960400-225965000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:225960600-225964200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:225960600-225964400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:225960600-225964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:225960600-225964600	Weak transcription	Fetal Brain Male	brain
32	chr1:225960600-225964600	Weak transcription	Fetal Heart	heart
33	chr1:225960600-225964800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:225960800-225964000	Weak transcription	Fetal Intestine Large	intestine
35	chr1:225960800-225964000	Weak transcription	Fetal Thymus	thymus
36	chr1:225960800-225964200	Weak transcription	Brain Germinal Matrix	brain
37	chr1:225960800-225964200	Weak transcription	Fetal Stomach	stomach
38	chr1:225960800-225964200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:225960800-225964200	Weak transcription	Thymus	Thymus
40	chr1:225960800-225964400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:225960800-225964400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:225960800-225964400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:225960800-225964400	Weak transcription	Adipose Nuclei	Adipose
44	chr1:225960800-225964400	Weak transcription	Liver	Liver
45	chr1:225960800-225964400	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:225960800-225964400	Weak transcription	Fetal Kidney	kidney
47	chr1:225960800-225964400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:225960800-225964400	Weak transcription	NHLF	lung
49	chr1:225960800-225964600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:225960800-225964600	Enhancers	Colon Smooth Muscle	Colon

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