Variant report

Variant	rs35247963
Chromosome Location	chr7:128277220-128277221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10085435	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10224862	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10227608	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10233059	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10241185	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10242806	0.82[EUR][1000 genomes]
rs10250369	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10253131	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10259359	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10261037	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10269844	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10270431	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270985	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10276810	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10954205	0.93[EUR][1000 genomes]
rs11761312	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11766319	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11768485	0.89[EUR][1000 genomes]
rs11771884	0.87[EUR][1000 genomes]
rs12333625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12535238	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12537208	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13224613	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13233377	0.87[EUR][1000 genomes]
rs13235219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13237593	0.83[EUR][1000 genomes]
rs13246302	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28496126	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28521260	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28521711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs339079	0.85[EUR][1000 genomes]
rs339093	0.87[EUR][1000 genomes]
rs34120723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34125589	0.86[EUR][1000 genomes]
rs34490491	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34751214	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34887739	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34942906	0.80[EUR][1000 genomes]
rs35825132	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35871589	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3816421	0.92[EUR][1000 genomes]
rs4289745	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55953818	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60029447	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6467181	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6467184	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6467201	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467205	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6943737	0.87[EUR][1000 genomes]
rs6946179	0.87[EUR][1000 genomes]
rs6958343	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6960296	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6961754	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6963982	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6967393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6969343	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6971819	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6972787	0.87[EUR][1000 genomes]
rs6976879	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6977126	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71546785	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71546786	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71548762	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7776915	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7777625	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7778169	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7778731	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7786772	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7787764	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7798172	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7804472	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7810047	0.87[EUR][1000 genomes]
rs7811083	0.93[EUR][1000 genomes]
rs9690225	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9690934	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9692416	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9768808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9769753	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv971047	chr7:128266439-128278778	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs35247963	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs35247963	CICP14	cis	Muscle Skeletal	GTEx
rs35247963	CICP14	cis	Nerve Tibial	GTEx
rs35247963	CICP14	cis	Artery Tibial	GTEx
rs35247963	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs35247963	RP11-274B21.10	cis	Nerve Tibial	GTEx
rs35247963	RP11-274B21.10	cis	Thyroid	GTEx
rs35247963	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs35247963	CICP14	cis	Thyroid	GTEx
rs35247963	CICP14	cis	Esophagus Muscularis	GTEx
rs35247963	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs35247963	CICP14	cis	lung	GTEx

Chromatin state (count:121 , 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	chr7:128246600-128284800	Weak transcription	Stomach Mucosa	stomach
6	chr7:128249600-128278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:128249600-128283200	Weak transcription	Hela-S3	cervix
8	chr7:128249600-128285800	Weak transcription	Fetal Heart	heart
9	chr7:128249600-128286800	Weak transcription	HSMMtube	muscle
10	chr7:128249600-128289000	Weak transcription	NHEK	skin
11	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:128249600-128295200	Weak transcription	NH-A	brain
13	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
14	chr7:128249600-128308400	Weak transcription	HSMM	muscle
15	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
16	chr7:128249600-128319600	Weak transcription	NHLF	lung
17	chr7:128252200-128287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:128256800-128288600	Weak transcription	Osteobl	bone
19	chr7:128258600-128287400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:128260000-128296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:128260200-128278600	Weak transcription	Dnd41	blood
22	chr7:128260400-128278600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:128260400-128300600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:128261200-128277400	Weak transcription	Right Ventricle	heart
25	chr7:128261600-128278600	Weak transcription	Aorta	Aorta
26	chr7:128262200-128293200	Weak transcription	Brain Germinal Matrix	brain
27	chr7:128262600-128283800	Weak transcription	Small Intestine	intestine
28	chr7:128262800-128278800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:128263000-128286600	Weak transcription	Fetal Brain Male	brain
30	chr7:128263400-128278600	Weak transcription	Gastric	stomach
31	chr7:128265800-128289000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:128266400-128278600	Weak transcription	Pancreas	Pancrea
33	chr7:128266400-128290400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:128267200-128287400	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:128268000-128278800	Weak transcription	Primary T cells from cord blood	blood
36	chr7:128269800-128279400	Weak transcription	Primary B cells from cord blood	blood
37	chr7:128270200-128278600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:128272200-128300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:128272400-128277400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:128272400-128278400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:128272400-128278600	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:128272400-128278600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:128272400-128278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:128272400-128279200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:128272400-128279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:128272400-128285800	Weak transcription	Fetal Kidney	kidney
47	chr7:128272400-128290400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:128272400-128290400	Weak transcription	K562	blood
49	chr7:128272400-128292400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:128272400-128293200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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