Variant report

Variant	rs35967040
Chromosome Location	chr1:150555588-150555589
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	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
2	chr1:150554954..150558805-chr1:150562851..150567781,4	K562	blood:

Variant related genes	Relation type
ENSG00000143420	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10888386	0.83[EUR][1000 genomes]
rs11204666	0.81[ASN][1000 genomes]
rs11204671	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12067556	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2280078	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6587756	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6655975	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6681426	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6695123	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7549723	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
3	nsv535156	chr1:150540117-150575941	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv535157	chr1:150552692-150575941	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs35967040	RP11-316M1.12	cis	Artery Tibial	GTEx
rs35967040	RP11-316M1.12	cis	Esophagus Muscularis	GTEx
rs35967040	HORMAD1	cis	Nerve Tibial	GTEx
rs35967040	RP11-316M1.12	cis	Esophagus Mucosa	GTEx
rs35967040	ARNT	Cis_1M	lymphoblastoid	RTeQTL
rs35967040	GOLPH3L	cis	Skin Sun Exposed Lower leg	GTEx
rs35967040	RP11-316M1.12	cis	lung	GTEx
rs35967040	RP11-316M1.12	cis	Nerve Tibial	GTEx
rs35967040	RP11-316M1.12	cis	Adipose Subcutaneous	GTEx
rs35967040	RP11-316M1.12	cis	Thyroid	GTEx
rs35967040	HORMAD1	cis	Skin Sun Exposed Lower leg	GTEx
rs35967040	GOLPH3L	cis	Nerve Tibial	GTEx
rs35967040	RP11-316M1.12	cis	Muscle Skeletal	GTEx
rs35967040	CTSS	Cis_1M	lymphoblastoid	RTeQTL
rs35967040	CTSS	cis	Thyroid	GTEx
rs35967040	HORMAD1	cis	Esophagus Mucosa	GTEx
rs35967040	RP11-316M1.12	cis	Whole Blood	GTEx
rs35967040	HORMAD1	cis	Adipose Subcutaneous	GTEx
rs35967040	RNU6-1042P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150553000-150555600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:150553000-150556000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:150553000-150557000	Weak transcription	Fetal Stomach	stomach
4	chr1:150553000-150557200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:150553000-150559200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:150553000-150560600	Weak transcription	Right Atrium	heart
7	chr1:150553000-150562600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:150553000-150572800	Weak transcription	Thymus	Thymus
9	chr1:150553000-150583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:150553200-150558200	Weak transcription	Right Ventricle	heart
11	chr1:150553200-150564200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:150553200-150566000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:150553200-150568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:150553200-150569400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:150553200-150569400	Weak transcription	Fetal Thymus	thymus
16	chr1:150553200-150572600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:150553200-150572600	Weak transcription	Fetal Brain Female	brain
18	chr1:150553200-150572800	Weak transcription	Brain Angular Gyrus	brain
19	chr1:150553200-150577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:150553200-150581800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:150553200-150581800	Weak transcription	Dnd41	blood
22	chr1:150553200-150583200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:150553200-150592000	Weak transcription	Fetal Kidney	kidney
24	chr1:150553400-150556400	Weak transcription	Fetal Intestine Small	intestine
25	chr1:150553800-150568000	Weak transcription	HSMM	muscle
26	chr1:150553800-150572600	Weak transcription	Lung	lung
27	chr1:150553800-150576800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:150554000-150558400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:150554000-150560400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:150554000-150568400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:150554000-150568600	Weak transcription	Hela-S3	cervix
32	chr1:150554000-150572000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:150554000-150583200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:150554200-150568400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:150554400-150572600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr1:150554600-150555600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:150554800-150555600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:150555000-150555600	Enhancers	HepG2	liver
39	chr1:150555400-150555600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:150555400-150555600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:150555400-150555600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:150555400-150555600	Enhancers	Colonic Mucosa	Colon
43	chr1:150555400-150555600	Enhancers	Placenta	Placenta
44	chr1:150555400-150555600	Enhancers	Gastric	stomach
45	chr1:150555400-150556000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:150555400-150568400	Weak transcription	Osteobl	bone
47	chr1:150555400-150572600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:150555400-150582600	Weak transcription	Primary B cells from cord blood	blood

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