Variant report

Variant	rs67065875
Chromosome Location	chr1:224547519-224547520
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224545456..224548563-chr1:224564069..224566245,3	K562	blood:
2	chr1:224544599..224546252-chr1:224546494..224549421,2	MCF-7	breast:
3	chr1:224547136..224549294-chr1:224550559..224553232,2	K562	blood:
4	chr1:224544325..224548164-chr1:224620481..224623704,4	K562	blood:

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143771	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10127813	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10127953	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10128058	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10159333	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10495219	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10753465	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10753466	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10753467	0.86[EUR][1000 genomes]
rs10753468	0.86[EUR][1000 genomes]
rs10799569	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916606	0.95[EUR][1000 genomes]
rs10916607	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10916614	0.90[EUR][1000 genomes]
rs10916616	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10916617	0.86[EUR][1000 genomes]
rs10916619	0.86[EUR][1000 genomes]
rs11576835	0.96[EUR][1000 genomes]
rs11577170	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11577183	0.96[EUR][1000 genomes]
rs11579952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584247	0.96[EUR][1000 genomes]
rs11584638	0.88[EUR][1000 genomes]
rs11584980	0.96[EUR][1000 genomes]
rs11586729	0.96[EUR][1000 genomes]
rs11588973	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11590658	0.86[EUR][1000 genomes]
rs11800613	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11801436	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11801645	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11803414	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805973	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11807763	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11807942	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811053	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12062871	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12731035	0.94[EUR][1000 genomes]
rs12731630	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12738799	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12739486	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12740255	0.96[EUR][1000 genomes]
rs12742821	0.96[EUR][1000 genomes]
rs12742989	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12743200	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12745610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12747286	0.90[EUR][1000 genomes]
rs12751161	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12754832	0.96[EUR][1000 genomes]
rs12755338	0.84[EUR][1000 genomes]
rs12755816	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12758302	0.83[EUR][1000 genomes]
rs12758579	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12759275	0.96[EUR][1000 genomes]
rs1539207	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1544196	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16848365	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17503938	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185684	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28434172	0.88[EUR][1000 genomes]
rs2897048	0.89[EUR][1000 genomes]
rs35011635	0.88[EUR][1000 genomes]
rs35031726	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067427	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35169600	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35277713	0.88[EUR][1000 genomes]
rs35303987	0.88[EUR][1000 genomes]
rs35341841	0.94[EUR][1000 genomes]
rs35365551	0.84[EUR][1000 genomes]
rs35571080	0.86[EUR][1000 genomes]
rs35915186	0.82[EUR][1000 genomes]
rs35972228	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36138926	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4653587	0.89[EUR][1000 genomes]
rs4654037	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55730749	0.86[EUR][1000 genomes]
rs56223447	0.96[EUR][1000 genomes]
rs6426121	0.94[EUR][1000 genomes]
rs6426123	0.89[EUR][1000 genomes]
rs6426125	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6426126	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66467176	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6663522	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6671751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672859	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6675858	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691779	0.96[EUR][1000 genomes]
rs6693287	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6701145	0.96[EUR][1000 genomes]
rs68037178	0.95[EUR][1000 genomes]
rs7365151	0.86[EUR][1000 genomes]
rs7512431	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7513208	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514284	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7514575	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7517754	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7519734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522956	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7527044	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7529067	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529310	0.89[EUR][1000 genomes]
rs867362	0.86[EUR][1000 genomes]
rs885606	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9970697	0.85[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs67065875	CNIH4	cis	Adipose Subcutaneous	GTEx
rs67065875	CNIH4	cis	Skin Sun Exposed Lower leg	GTEx
rs67065875	CNIH4	cis	Nerve Tibial	GTEx
rs67065875	CNIH4	cis	Heart Left Ventricle	GTEx
rs67065875	CNIH4	cis	Thyroid	GTEx
rs67065875	CNIH4	cis	Esophagus Muscularis	GTEx
rs67065875	CNIH4	cis	Stomach	GTEx
rs67065875	CNIH4	cis	Muscle Skeletal	GTEx
rs67065875	CNIH4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545200-224555200	Weak transcription	Spleen	Spleen
2	chr1:224545400-224547800	Enhancers	Pancreas	Pancrea
3	chr1:224545400-224553800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:224545400-224559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:224545600-224547600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr1:224545600-224555200	Weak transcription	Lung	lung
7	chr1:224545600-224555200	Weak transcription	Ovary	ovary
8	chr1:224545800-224547800	Enhancers	Esophagus	oesophagus
9	chr1:224545800-224549800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:224545800-224555000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:224545800-224562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
13	chr1:224546000-224548000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:224546000-224548000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:224546000-224548400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:224546000-224548600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:224546000-224548600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:224546000-224548600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:224546000-224549800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:224546000-224551600	Weak transcription	Thymus	Thymus
21	chr1:224546000-224554600	Weak transcription	Liver	Liver
22	chr1:224546000-224555200	Weak transcription	Fetal Kidney	kidney
23	chr1:224546000-224556400	Weak transcription	Brain Angular Gyrus	brain
24	chr1:224546000-224563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:224546000-224564400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:224546200-224547600	Enhancers	A549	lung
27	chr1:224546200-224547800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:224546200-224548000	Enhancers	Fetal Brain Male	brain
29	chr1:224546200-224548000	Enhancers	HepG2	liver
30	chr1:224546200-224548600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:224546200-224548600	Enhancers	Primary T cells from cord blood	blood
32	chr1:224546200-224549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:224546200-224550800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:224546200-224551000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:224546200-224551200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:224546200-224551400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:224546200-224551400	Weak transcription	HSMMtube	muscle
38	chr1:224546200-224551800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:224546200-224552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:224546200-224553000	Weak transcription	HSMM	muscle
41	chr1:224546200-224553200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:224546200-224553400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:224546200-224553600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:224546200-224554800	Weak transcription	Placenta	Placenta
45	chr1:224546200-224554800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:224546200-224555200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:224546200-224555200	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:224546200-224555200	Weak transcription	Brain Substantia Nigra	brain
49	chr1:224546200-224555200	Weak transcription	Colonic Mucosa	Colon
50	chr1:224546200-224555200	Weak transcription	Placenta Amnion	Placenta Amnion

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