Variant report

Variant	rs11803981
Chromosome Location	chr1:224545410-224545411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224369887..224372532-chr1:224544188..224545968,2	K562	blood:
2	chr1:224543721..224546086-chr1:224562908..224565121,2	MCF-7	breast:
3	chr1:224543329..224547108-chr1:224619239..224622996,5	MCF-7	breast:
4	chr1:224544325..224548164-chr1:224620481..224623704,4	K562	blood:
5	chr1:224514132..224518075-chr1:224542843..224545822,3	K562	blood:
6	chr1:224544926..224545772-chr2:139316986..139317870,2	MCF-7	breast:
7	chr1:150551640..150552230-chr1:224545109..224545681,2	Hela-S3	cervix:
8	chr1:224515424..224519366-chr1:224544067..224546170,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143771	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143748	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000162923	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]
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]
rs67065875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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
rs11803981	CNIH4	cis	Nerve Tibial	GTEx
rs11803981	CNIH4	cis	Stomach	GTEx
rs11803981	CNIH4	cis	Muscle Skeletal	GTEx
rs11803981	CNIH4	cis	Esophagus Mucosa	GTEx
rs11803981	CNIH4	cis	Thyroid	GTEx
rs11803981	CNIH4	cis	Esophagus Muscularis	GTEx
rs11803981	CNIH4	cis	Skin Sun Exposed Lower leg	GTEx
rs11803981	CNIH4	cis	Heart Left Ventricle	GTEx
rs11803981	CNIH4	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224544000-224546400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224544200-224545600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:224544200-224545600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:224544200-224545600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:224544200-224545600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:224544200-224545600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:224544200-224545600	Active TSS	Brain Anterior Caudate	brain
8	chr1:224544200-224545600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:224544200-224545600	Active TSS	Fetal Brain Female	brain
10	chr1:224544200-224545600	Active TSS	Fetal Kidney	kidney
11	chr1:224544200-224545600	Active TSS	Psoas Muscle	Psoas
12	chr1:224544200-224545600	Active TSS	GM12878-XiMat	blood
13	chr1:224544200-224545600	Active TSS	HMEC	breast
14	chr1:224544200-224545600	Active TSS	K562	blood
15	chr1:224544200-224545800	Active TSS	A549	lung
16	chr1:224544200-224546000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:224544400-224545600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:224544400-224545600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:224544400-224545600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:224544400-224545600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:224544400-224545600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:224544400-224545600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:224544400-224545600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:224544400-224545600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:224544400-224545600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:224544400-224545600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:224544400-224545600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:224544400-224545600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:224544400-224545600	Active TSS	Fetal Intestine Small	intestine
30	chr1:224544400-224545600	Active TSS	Fetal Muscle Trunk	muscle
31	chr1:224544400-224545600	Active TSS	Fetal Stomach	stomach
32	chr1:224544400-224545600	Active TSS	Ovary	ovary
33	chr1:224544400-224545600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr1:224544400-224545600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr1:224544400-224545600	Active TSS	Stomach Smooth Muscle	stomach
36	chr1:224544400-224545600	Active TSS	Hela-S3	cervix
37	chr1:224544400-224545600	Active TSS	HSMMtube	muscle
38	chr1:224544400-224545600	Active TSS	HUVEC	blood vessel
39	chr1:224544400-224545600	Active TSS	NHDF-Ad	bronchial
40	chr1:224544400-224545600	Active TSS	NHEK	skin
41	chr1:224544400-224545600	Active TSS	NHLF	lung
42	chr1:224544400-224545800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:224544400-224545800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:224544400-224545800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:224544400-224545800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:224544400-224545800	Active TSS	Brain Angular Gyrus	brain
47	chr1:224544400-224545800	Active TSS	Esophagus	oesophagus
48	chr1:224544400-224545800	Active TSS	Fetal Intestine Large	intestine
49	chr1:224544400-224545800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:224544400-224545800	Active TSS	Right Ventricle	heart

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