Variant report

Variant	rs4731479
Chromosome Location	chr7:128185782-128185783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128179250..128182993-chr7:128185762..128188168,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 35 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10225988	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10237880	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10247178	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11978608	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11982561	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12670823	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28505422	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4731480	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731494	0.81[EUR][1000 genomes]
rs56033435	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62483297	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6955960	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6975194	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6978360	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7385676	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7793351	0.81[ASN][1000 genomes]
rs7795558	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7797359	0.82[EUR][1000 genomes]
rs7802233	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7804825	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7807293	0.85[EUR][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	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

mRNA abundance (count:35)

SNP	Gene	Cis/trans	Tissue	Source
rs4731479	RP11-274B21.4	cis	Esophagus Muscularis	GTEx
rs4731479	RP11-274B21.2	cis	lung	GTEx
rs4731479	CICP14	cis	Muscle Skeletal	GTEx
rs4731479	RP11-274B21.2	cis	Thyroid	GTEx
rs4731479	RP11-274B21.4	cis	lung	GTEx
rs4731479	RP11-274B21.1	cis	lung	GTEx
rs4731479	RP11-274B21.2	cis	Stomach	GTEx
rs4731479	CICP14	cis	Artery Tibial	GTEx
rs4731479	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs4731479	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs4731479	RP11-274B21.3	cis	Adipose Subcutaneous	GTEx
rs4731479	CICP14	cis	lung	GTEx
rs4731479	RP11-274B21.1	cis	Muscle Skeletal	GTEx
rs4731479	RP11-274B21.3	cis	Thyroid	GTEx
rs4731479	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs4731479	RP11-274B21.2	cis	Artery Tibial	GTEx
rs4731479	RP11-274B21.4	cis	Thyroid	GTEx
rs4731479	RP11-274B21.4	cis	Stomach	GTEx
rs4731479	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs4731479	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs4731479	CICP14	cis	Thyroid	GTEx
rs4731479	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs4731479	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs4731479	RP11-274B21.4	cis	Whole Blood	GTEx
rs4731479	RP11-274B21.4	cis	Artery Tibial	GTEx
rs4731479	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs4731479	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs4731479	RP11-274B21.3	cis	Muscle Skeletal	GTEx
rs4731479	RP11-274B21.3	cis	Stomach	GTEx
rs4731479	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs4731479	CICP14	cis	Adipose Subcutaneous	GTEx
rs4731479	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4731479	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4731479	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs4731479	RP11-274B21.1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128172600-128187600	Weak transcription	Pancreas	Pancrea
2	chr7:128172600-128189800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:128172600-128191000	Weak transcription	Ovary	ovary
4	chr7:128172600-128191200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:128172600-128193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:128172600-128210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:128172600-128214800	Weak transcription	Gastric	stomach
8	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
9	chr7:128173000-128188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:128173000-128190400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:128173000-128190800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:128173000-128231800	Weak transcription	Colonic Mucosa	Colon
13	chr7:128173000-128231800	Weak transcription	Fetal Kidney	kidney
14	chr7:128173400-128188200	Weak transcription	Fetal Brain Male	brain
15	chr7:128173600-128187200	Weak transcription	Brain Anterior Caudate	brain
16	chr7:128173600-128201000	Weak transcription	Psoas Muscle	Psoas
17	chr7:128173600-128214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:128173800-128186600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:128173800-128186800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:128173800-128186800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:128173800-128186800	Weak transcription	HMEC	breast
22	chr7:128173800-128186800	Weak transcription	NHDF-Ad	bronchial
23	chr7:128173800-128187000	Weak transcription	Primary B cells from cord blood	blood
24	chr7:128173800-128187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:128173800-128190800	Weak transcription	Brain Substantia Nigra	brain
26	chr7:128173800-128191000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:128173800-128197800	Weak transcription	Right Atrium	heart
28	chr7:128173800-128199800	Weak transcription	Right Ventricle	heart
29	chr7:128173800-128201000	Weak transcription	Brain Germinal Matrix	brain
30	chr7:128173800-128214800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:128174000-128186800	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:128174000-128187000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:128174000-128187000	Weak transcription	NHEK	skin
35	chr7:128174000-128210600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:128174000-128220600	Weak transcription	NHLF	lung
37	chr7:128174000-128231800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:128174000-128232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:128174200-128186200	Weak transcription	GM12878-XiMat	blood
40	chr7:128174200-128186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:128174200-128186800	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:128174200-128186800	Weak transcription	Fetal Brain Female	brain
43	chr7:128174200-128186800	Weak transcription	NH-A	brain
44	chr7:128174200-128190200	Weak transcription	HepG2	liver
45	chr7:128174200-128191600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:128174400-128186600	Weak transcription	Primary T cells from cord blood	blood
47	chr7:128174600-128193600	Strong transcription	Fetal Stomach	stomach
48	chr7:128175400-128186800	Weak transcription	Adipose Nuclei	Adipose
49	chr7:128175400-128231800	Weak transcription	Left Ventricle	heart
50	chr7:128175800-128186800	Weak transcription	H1 Cell Line	embryonic stem cell

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