Variant report

Variant	rs4535605
Chromosome Location	chr7:65415425-65415426
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65338343..65340268-chr7:65414719..65416455,2	K562	blood:
2	chr7:65337107..65340268-chr7:65414236..65416219,3	K562	blood:

Variant related genes	Relation type
ENSG00000196715	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1084094	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10950014	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10950015	0.84[EUR][1000 genomes]
rs10950018	0.86[EUR][1000 genomes]
rs10950021	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10950022	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1167398	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11767030	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11773552	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12532875	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12532877	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12534626	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12535204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12538430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540589	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12671816	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2264667	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2420048	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs313811	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs365896	0.89[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap]
rs382062	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs401176	0.89[EUR][1000 genomes]
rs4499980	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs453835	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4717280	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718287	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs4718296	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718298	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59187325	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60711791	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460265	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6460266	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6950688	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6950821	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6958860	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6959267	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6971490	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6971690	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142138	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73142150	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142153	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142155	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73148071	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7778644	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7779679	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7786356	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7800210	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7803283	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7807457	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
5	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv966831	chr7:65415065-65428348	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4535605	RP4-756H11.3	cis	Thyroid	GTEx
rs4535605	LOC168474	cis	cerebellum	SCAN
rs4535605	VKORC1L1	cis	multi-tissue	Pritchard
rs4535605	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4535605	GUSB	cis	parietal	SCAN
rs4535605	RP13-254B10.1	cis	Esophagus Mucosa	GTEx
rs4535605	ERV3	cis	multi-tissue	Pritchard
rs4535605	RABGEF1	cis	cerebellum	SCAN
rs4535605	CRCP	cis	cerebellum	SCAN
rs4535605	GUSB	cis	cerebellum	SCAN
rs4535605	ZNF273	cis	cerebellum	SCAN
rs4535605	ZNF273	cis	parietal	SCAN
rs4535605	ERV3	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:65375000-65418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:65375600-65419800	Weak transcription	HSMMtube	muscle
7	chr7:65379200-65419000	Weak transcription	Fetal Thymus	thymus
8	chr7:65381800-65420200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:65382000-65420600	Weak transcription	Primary B cells from cord blood	blood
10	chr7:65382800-65419800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:65383200-65419000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:65383800-65419600	Weak transcription	GM12878-XiMat	blood
13	chr7:65389400-65423800	Weak transcription	Aorta	Aorta
14	chr7:65390400-65419000	Weak transcription	Thymus	Thymus
15	chr7:65390600-65423800	Weak transcription	Gastric	stomach
16	chr7:65392600-65418400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:65393200-65419600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:65393400-65419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:65395600-65420400	Weak transcription	Esophagus	oesophagus
20	chr7:65395800-65420000	Weak transcription	Fetal Lung	lung
21	chr7:65396600-65418600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:65396800-65416800	Weak transcription	Hela-S3	cervix
23	chr7:65396800-65420000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:65397400-65419600	Weak transcription	Left Ventricle	heart
25	chr7:65399200-65425000	Weak transcription	Small Intestine	intestine
26	chr7:65399800-65419600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:65400200-65420200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:65400800-65420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:65401000-65417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:65401200-65420000	Weak transcription	HUVEC	blood vessel
31	chr7:65401200-65423800	Weak transcription	Spleen	Spleen
32	chr7:65401400-65425000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:65401800-65425000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:65402000-65420200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:65402000-65424800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:65402000-65425000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:65402200-65419000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:65402400-65419400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:65402800-65417800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:65403800-65419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:65403800-65419600	Weak transcription	Osteobl	bone
42	chr7:65404000-65418800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:65404000-65420400	Weak transcription	HSMM	muscle
44	chr7:65404200-65417800	Weak transcription	Primary T cells from cord blood	blood
45	chr7:65404200-65418400	Weak transcription	K562	blood
46	chr7:65404200-65418800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:65404400-65416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:65404400-65419000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:65404400-65419000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:65404400-65419000	Weak transcription	Lung	lung

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