Variant report

Variant	rs57271522
Chromosome Location	chr7:128235523-128235524
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1014506	1.00[AFR][1000 genomes]
rs1056633	1.00[AFR][1000 genomes]
rs17152072	1.00[AFR][1000 genomes]
rs2288553	1.00[AFR][1000 genomes]
rs28364722	1.00[AFR][1000 genomes]
rs3807127	0.80[EUR][1000 genomes]
rs4552841	0.88[AMR][1000 genomes]
rs4728109	1.00[AFR][1000 genomes]
rs4728127	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731457	1.00[AFR][1000 genomes]
rs4731458	1.00[AFR][1000 genomes]
rs4731470	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4731471	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4731495	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5018787	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56734454	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57056869	0.83[EUR][1000 genomes]
rs57503656	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61192768	1.00[AFR][1000 genomes]
rs61556684	1.00[AFR][1000 genomes]
rs930683	0.83[EUR][1000 genomes]
rs9801062	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1848097	chr7:128179503-128248497	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv1810084	chr7:128201902-128248697	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1829966	chr7:128201902-128248697	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1847512	chr7:128201902-128248697	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv966885	chr7:128212815-128256300	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
2	chr7:128197800-128241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128200000-128258800	Weak transcription	Right Ventricle	heart
4	chr7:128204800-128258800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:128213400-128238800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:128217800-128244000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:128219400-128249200	Weak transcription	Fetal Heart	heart
8	chr7:128220800-128249200	Weak transcription	A549	lung
9	chr7:128221000-128236400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:128223800-128258800	Weak transcription	Lung	lung
11	chr7:128226400-128258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:128229400-128237200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:128229800-128235800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:128230000-128249200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:128230400-128237600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:128230800-128237600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:128230800-128240400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:128231000-128237200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:128231000-128241800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:128231200-128236000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:128231600-128235600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:128231600-128235800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:128231600-128237200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:128231800-128235800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:128231800-128235800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr7:128231800-128235800	Strong transcription	Left Ventricle	heart
27	chr7:128231800-128236000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:128231800-128237000	Strong transcription	Fetal Stomach	stomach
29	chr7:128231800-128237000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr7:128231800-128237600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:128231800-128237600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:128231800-128237600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:128231800-128237600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:128231800-128237600	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:128231800-128237800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:128231800-128237800	Strong transcription	Fetal Thymus	thymus
37	chr7:128231800-128238600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:128232400-128237400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:128232800-128237400	Weak transcription	Psoas Muscle	Psoas
40	chr7:128233000-128238800	Weak transcription	NHEK	skin
41	chr7:128233200-128238800	Weak transcription	Fetal Brain Male	brain
42	chr7:128233200-128258800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:128233200-128258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:128233400-128235600	Weak transcription	HMEC	breast
45	chr7:128233400-128236200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:128233400-128236200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:128233400-128236400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:128233400-128237400	Weak transcription	Brain Substantia Nigra	brain
49	chr7:128233400-128237400	Weak transcription	Ovary	ovary
50	chr7:128233400-128238000	Weak transcription	Brain Angular Gyrus	brain

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