Variant report

Variant	rs6955870
Chromosome Location	chr7:128233770-128233771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1013514	0.85[AMR][1000 genomes]
rs10954206	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11769769	0.83[ASW][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11982488	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2956682	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731481	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55817807	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55928948	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59287454	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60382581	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61437980	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62481896	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481928	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62483311	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62483370	0.85[AMR][1000 genomes]
rs6467200	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6965333	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7795141	0.86[ASN][1000 genomes]
rs7800335	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9768325	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs6955870	RP11-274B21.3	cis	Muscle Skeletal	GTEx
rs6955870	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs6955870	RP11-274B21.2	cis	Thyroid	GTEx
rs6955870	CICP14	cis	Artery Tibial	GTEx
rs6955870	RP11-274B21.3	cis	Nerve Tibial	GTEx
rs6955870	RP11-274B21.4	cis	lung	GTEx
rs6955870	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs6955870	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs6955870	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs6955870	RP11-274B21.2	cis	lung	GTEx
rs6955870	RP11-274B21.3	cis	Thyroid	GTEx
rs6955870	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs6955870	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs6955870	RP11-274B21.2	cis	Stomach	GTEx
rs6955870	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs6955870	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs6955870	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs6955870	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs6955870	RP11-274B21.1	cis	lung	GTEx
rs6955870	RP11-274B21.4	cis	Stomach	GTEx
rs6955870	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs6955870	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs6955870	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs6955870	CICP14	cis	Thyroid	GTEx
rs6955870	RP11-274B21.4	cis	Thyroid	GTEx

Chromatin state (count:123 , 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	chr7:128173800-128234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:128197800-128241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:128200000-128258800	Weak transcription	Right Ventricle	heart
5	chr7:128204800-128258800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:128213400-128238800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:128217800-128244000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:128219400-128249200	Weak transcription	Fetal Heart	heart
9	chr7:128220800-128249200	Weak transcription	A549	lung
10	chr7:128221000-128236400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:128223800-128258800	Weak transcription	Lung	lung
12	chr7:128226400-128258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:128229400-128237200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:128229800-128234400	Strong transcription	HSMM	muscle
15	chr7:128229800-128235000	Strong transcription	Dnd41	blood
16	chr7:128229800-128235800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:128230000-128249200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:128230400-128237600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:128230600-128234800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:128230800-128234600	Strong transcription	Primary T cells from cord blood	blood
21	chr7:128230800-128234800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:128230800-128237600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:128230800-128240400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:128231000-128237200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:128231000-128241800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:128231200-128236000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:128231600-128233800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:128231600-128234400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:128231600-128234400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr7:128231600-128235400	Strong transcription	Osteobl	bone
31	chr7:128231600-128235600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:128231600-128235800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr7:128231600-128237200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:128231800-128233800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:128231800-128233800	Strong transcription	Primary B cells from cord blood	blood
36	chr7:128231800-128233800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:128231800-128233800	Strong transcription	Adipose Nuclei	Adipose
38	chr7:128231800-128233800	Strong transcription	Brain Anterior Caudate	brain
39	chr7:128231800-128234000	Strong transcription	K562	blood
40	chr7:128231800-128234400	Strong transcription	HSMMtube	muscle
41	chr7:128231800-128234600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:128231800-128234600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:128231800-128234600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:128231800-128234600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:128231800-128234600	Strong transcription	Fetal Intestine Large	intestine
46	chr7:128231800-128235000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:128231800-128235000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr7:128231800-128235200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:128231800-128235200	Strong transcription	Liver	Liver
50	chr7:128231800-128235400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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