Variant report

Variant	rs11581176
Chromosome Location	chr1:92982418-92982419
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	chr1:92977725..92979355-chr1:92980937..92983105,2	K562	blood:
2	chr1:92764183..92766708-chr1:92981582..92984130,2	K562	blood:

Variant related genes	Relation type
ENSG00000122484	Chromatin interaction
ENSG00000174842	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10874637	0.86[ASN][1000 genomes]
rs11577426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11578098	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11588044	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11588509	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11588545	0.85[ASN][1000 genomes]
rs11589122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11589858	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11800409	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11800771	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11800848	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs11803097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11804321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11805007	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11807962	0.85[ASN][1000 genomes]
rs11808092	1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11810217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12407622	1.00[CHB][hapmap]
rs12731107	1.00[JPT][hapmap]
rs12733238	0.85[ASN][1000 genomes]
rs12740246	1.00[CHB][hapmap]
rs12743520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12749786	1.00[CHB][hapmap]
rs12755781	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12756786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12757533	1.00[CHB][hapmap]
rs1333743	0.85[ASN][1000 genomes]
rs1415296	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17519972	1.00[CHB][hapmap]
rs2391158	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs34202284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34221961	0.85[ASN][1000 genomes]
rs34734076	0.85[ASN][1000 genomes]
rs3790450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs41286801	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41313373	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4642892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4949888	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4970700	0.82[MKK][hapmap]
rs56044027	0.85[ASN][1000 genomes]
rs56307974	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56406332	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58394161	0.86[ASN][1000 genomes]
rs6603973	0.86[ASN][1000 genomes]
rs6603974	0.86[ASN][1000 genomes]
rs6660889	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689470	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697978	0.86[EUR][1000 genomes]
rs72722469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722475	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722484	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722498	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72724515	0.85[ASN][1000 genomes]
rs7520275	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11581176	HFM1	cis	parietal	SCAN
rs11581176	ZNF7	trans	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92967800-92986000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:92968200-93042800	Weak transcription	HSMM	muscle
4	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:92969600-92984200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:92969800-92992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:92969800-92996800	Weak transcription	NH-A	brain
8	chr1:92970000-92992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:92972600-93013400	Weak transcription	Ovary	ovary
11	chr1:92973000-92983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:92973400-92987400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
15	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
16	chr1:92977400-92993200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:92977600-92995000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:92977600-92995800	Weak transcription	Right Ventricle	heart
19	chr1:92977600-93010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:92977600-93013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:92977800-92986800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:92977800-92987400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:92977800-92995000	Weak transcription	Lung	lung
24	chr1:92978000-92982800	Weak transcription	Adipose Nuclei	Adipose
25	chr1:92978000-92995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:92978800-92991600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:92979600-92992600	Weak transcription	Left Ventricle	heart
28	chr1:92979600-92993000	Weak transcription	Placenta	Placenta
29	chr1:92979600-93002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:92980400-92982600	Enhancers	Dnd41	blood
31	chr1:92980600-92982600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:92980600-92983200	Weak transcription	Fetal Lung	lung
33	chr1:92981000-92982600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:92981400-92982800	Enhancers	K562	blood
35	chr1:92981800-92984400	Strong transcription	Primary B cells from cord blood	blood
36	chr1:92981800-93004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:92981800-93033400	Weak transcription	NHEK	skin
38	chr1:92982200-92991800	Weak transcription	Liver	Liver
39	chr1:92982400-92992000	Weak transcription	Primary monocytes fromperipheralblood	blood

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