Variant report

Variant	rs35603038
Chromosome Location	chr7:128285379-128285380
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10085435	0.90[AFR][1000 genomes]
rs10227608	0.85[AFR][1000 genomes]
rs10233059	0.93[AFR][1000 genomes]
rs10250369	0.85[AFR][1000 genomes]
rs10253131	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10261037	0.86[AFR][1000 genomes]
rs10269844	0.87[AFR][1000 genomes]
rs10270431	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10954205	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11768485	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11771884	0.80[AFR][1000 genomes]
rs12333625	0.89[ASN][1000 genomes]
rs12536288	0.89[ASN][1000 genomes]
rs12537208	0.89[AFR][1000 genomes]
rs12706858	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13224613	0.89[ASN][1000 genomes]
rs13235219	0.89[ASN][1000 genomes]
rs28496126	0.89[AFR][1000 genomes]
rs28521260	0.85[AFR][1000 genomes]
rs28521711	1.00[ASN][1000 genomes]
rs34120723	0.89[ASN][1000 genomes]
rs34490491	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34751214	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34757247	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34942906	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34960471	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35871589	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3816421	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4289745	0.89[ASN][1000 genomes]
rs55953818	0.89[AFR][1000 genomes]
rs60029447	0.85[AFR][1000 genomes]
rs6467184	0.87[AFR][1000 genomes]
rs6467201	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6958343	0.87[AFR][1000 genomes]
rs6960296	0.89[ASN][1000 genomes]
rs6961754	0.84[ASN][1000 genomes]
rs6967393	0.89[ASN][1000 genomes]
rs6969343	0.84[AFR][1000 genomes]
rs6971819	0.89[ASN][1000 genomes]
rs71546785	0.87[AFR][1000 genomes]
rs71546786	0.89[AFR][1000 genomes]
rs71546790	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776915	0.94[AFR][1000 genomes]
rs7778169	0.96[AFR][1000 genomes]
rs7787764	0.89[ASN][1000 genomes]
rs7790478	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7790839	0.80[AFR][1000 genomes]
rs7798172	0.89[AFR][1000 genomes]
rs7811083	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9690225	0.87[AFR][1000 genomes]
rs9690934	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9692416	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9768808	0.89[ASN][1000 genomes]
rs9769753	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv970938	chr7:128256300-128300276	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35603038	CICP14	cis	Muscle Skeletal	GTEx
rs35603038	RP11-274B21.10	cis	Esophagus Muscularis	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128237800-128290400	Weak transcription	HepG2	liver
2	chr7:128239200-128287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:128249600-128285800	Weak transcription	Fetal Heart	heart
6	chr7:128249600-128286800	Weak transcription	HSMMtube	muscle
7	chr7:128249600-128289000	Weak transcription	NHEK	skin
8	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:128249600-128295200	Weak transcription	NH-A	brain
10	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
11	chr7:128249600-128308400	Weak transcription	HSMM	muscle
12	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
13	chr7:128249600-128319600	Weak transcription	NHLF	lung
14	chr7:128252200-128287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:128256800-128288600	Weak transcription	Osteobl	bone
16	chr7:128258600-128287400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:128260000-128296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:128260400-128300600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:128262200-128293200	Weak transcription	Brain Germinal Matrix	brain
20	chr7:128263000-128286600	Weak transcription	Fetal Brain Male	brain
21	chr7:128265800-128289000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:128266400-128290400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:128267200-128287400	Strong transcription	Fetal Muscle Leg	muscle
24	chr7:128272200-128300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:128272400-128285800	Weak transcription	Fetal Kidney	kidney
26	chr7:128272400-128290400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:128272400-128290400	Weak transcription	K562	blood
28	chr7:128272400-128292400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:128272400-128293200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:128273600-128290600	Weak transcription	Fetal Brain Female	brain
31	chr7:128273800-128291800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:128274200-128296400	Weak transcription	Colonic Mucosa	Colon
33	chr7:128274400-128287400	Strong transcription	Liver	Liver
34	chr7:128274600-128291200	Weak transcription	Esophagus	oesophagus
35	chr7:128275600-128287400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:128275600-128295000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:128275800-128289600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:128276000-128287200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr7:128276000-128287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:128276200-128287400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:128277200-128285600	Strong transcription	Fetal Intestine Large	intestine
42	chr7:128277200-128285600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:128277200-128287400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:128277400-128286200	Strong transcription	Placenta	Placenta
45	chr7:128277400-128287400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr7:128277600-128285600	Strong transcription	Adipose Nuclei	Adipose
47	chr7:128278000-128289000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:128278400-128285600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:128278400-128287400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:128278400-128287600	Strong transcription	Fetal Stomach	stomach

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