Variant report

Variant	rs3903212
Chromosome Location	chr1:92984055-92984056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92764183..92766708-chr1:92981582..92984130,2	K562	blood:

Variant related genes	Relation type
ENSG00000174842	Chromatin interaction
ENSG00000122484	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1003116	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1034218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1059267	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1059268	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10735781	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10747446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10782912	0.91[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs10782936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10782937	0.89[EUR][1000 genomes]
rs10874710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10874724	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874725	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10874726	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874727	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874732	0.82[EUR][1000 genomes]
rs10874733	0.81[EUR][1000 genomes]
rs10874736	0.83[EUR][1000 genomes]
rs11164601	0.90[EUR][1000 genomes]
rs11164607	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs11164608	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs11164785	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11164789	0.86[EUR][1000 genomes]
rs11164791	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11164796	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs12025792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12073693	0.83[EUR][1000 genomes]
rs12123935	0.83[EUR][1000 genomes]
rs1325434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1337107	0.82[EUR][1000 genomes]
rs1359490	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs1886684	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1932965	0.82[CHB][hapmap]
rs2107519	0.80[EUR][1000 genomes]
rs35029291	0.84[EUR][1000 genomes]
rs3936944	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3936945	0.90[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs3936946	0.82[CHB][hapmap]
rs4000736	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4294422	0.95[CEU][hapmap];0.85[CHB][hapmap];0.86[EUR][1000 genomes]
rs4294424	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4480368	0.82[EUR][1000 genomes]
rs4484938	0.82[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4565725	0.88[EUR][1000 genomes]
rs4847267	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4847306	0.82[EUR][1000 genomes]
rs4847432	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4970700	0.95[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs4970702	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs4970703	0.88[EUR][1000 genomes]
rs4970707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970714	0.82[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs6603976	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6603986	0.95[CEU][hapmap];0.85[CHB][hapmap];0.93[EUR][1000 genomes]
rs6603989	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6603992	0.91[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs6603997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6604007	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs6604013	0.81[EUR][1000 genomes]
rs6604014	0.82[EUR][1000 genomes]
rs6660136	0.82[EUR][1000 genomes]
rs6660962	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6666831	0.81[EUR][1000 genomes]
rs6675753	0.81[EUR][1000 genomes]
rs6680578	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes]
rs6682801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6695638	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6697491	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6703440	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs722356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7417452	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7418336	0.85[CEU][hapmap]
rs7513775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7514156	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7514334	0.87[EUR][1000 genomes]
rs7520630	0.91[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs7521752	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7530780	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7535490	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7540564	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7541942	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs912796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942753	0.95[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]

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

No data

Chromatin state (count:38 , 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	chr1:92973400-92987400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
14	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
15	chr1:92977400-92993200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:92977600-92995000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:92977600-92995800	Weak transcription	Right Ventricle	heart
18	chr1:92977600-93010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:92977600-93013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:92977800-92986800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:92977800-92987400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:92977800-92995000	Weak transcription	Lung	lung
23	chr1:92978000-92995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:92978800-92991600	Weak transcription	Fetal Intestine Small	intestine
25	chr1:92979600-92992600	Weak transcription	Left Ventricle	heart
26	chr1:92979600-92993000	Weak transcription	Placenta	Placenta
27	chr1:92979600-93002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:92981800-92984400	Strong transcription	Primary B cells from cord blood	blood
29	chr1:92981800-93004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:92981800-93033400	Weak transcription	NHEK	skin
31	chr1:92982200-92991800	Weak transcription	Liver	Liver
32	chr1:92982400-92992000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:92983000-92985200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:92983000-92987800	Weak transcription	Spleen	Spleen
35	chr1:92983400-92998600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:92983600-92991800	Weak transcription	Brain Angular Gyrus	brain
37	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
38	chr1:92983800-92984400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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