Variant report

Variant	rs997251
Chromosome Location	chr1:85845367-85845368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85839536..85841245-chr1:85843364..85846261,2	K562	blood:
2	chr1:85843890..85846384-chr1:85930341..85931976,2	MCF-7	breast:
3	chr1:85839315..85841036-chr1:85844742..85846261,2	K562	blood:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1001604	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10489513	0.89[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11161606	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11161607	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161610	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11161611	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146379	0.81[EUR][1000 genomes]
rs12044537	0.89[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12047422	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124170	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12125557	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12140103	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1342323	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1498373	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1498375	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1554597	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs173026	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs18582	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1884139	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2011825	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012683	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2177461	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2207368	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268667	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2300634	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2300637	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233047	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs233053	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233054	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233055	0.81[EUR][1000 genomes]
rs233057	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233058	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233059	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233060	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233061	0.86[EUR][1000 genomes]
rs233062	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs233066	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233067	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233068	0.87[EUR][1000 genomes]
rs233069	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233071	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233072	0.85[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs233074	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs233091	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233093	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233095	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233097	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs233099	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233108	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233109	0.86[EUR][1000 genomes]
rs233112	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs233113	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233114	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233115	0.92[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233118	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs233119	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233120	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233121	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233124	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs233127	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233130	0.86[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233131	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233132	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233133	0.86[EUR][1000 genomes]
rs2840319	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2892888	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087894	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768227	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3920521	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3949301	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs423105	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4949890	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4949900	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs506082	0.87[EUR][1000 genomes]
rs6576761	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6576763	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6576764	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576765	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6576766	0.87[EUR][1000 genomes]
rs6576767	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6657817	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6671599	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66811655	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6697083	0.95[CEU][hapmap]
rs6704103	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67611930	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724606	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729655	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7547571	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs761601	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839400-85846400	Weak transcription	Small Intestine	intestine
2	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
3	chr1:85840200-85845400	Weak transcription	NHLF	lung
4	chr1:85840200-85845600	Weak transcription	Psoas Muscle	Psoas
5	chr1:85840400-85845400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:85840400-85848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
8	chr1:85841200-85859800	Weak transcription	NH-A	brain
9	chr1:85841800-85848000	Weak transcription	NHDF-Ad	bronchial
10	chr1:85842000-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:85842400-85845400	Weak transcription	Fetal Kidney	kidney
12	chr1:85842400-85847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:85842600-85846000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:85842600-85847800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:85842800-85847200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:85842800-85847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:85844200-85845400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:85844200-85845800	Enhancers	Fetal Muscle Leg	muscle
19	chr1:85844800-85845400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:85844800-85845400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:85844800-85845600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:85844800-85846200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:85844800-85846200	Enhancers	Liver	Liver
24	chr1:85844800-85846200	Enhancers	Brain Anterior Caudate	brain
25	chr1:85844800-85846200	Enhancers	Fetal Stomach	stomach
26	chr1:85844800-85846200	Enhancers	Ovary	ovary
27	chr1:85845000-85848000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:85845000-85852800	Strong transcription	Osteobl	bone
29	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
30	chr1:85845200-85845400	Enhancers	Fetal Intestine Small	intestine
31	chr1:85845200-85845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:85845200-85845600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:85845200-85846000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:85845200-85846200	Enhancers	Fetal Lung	lung
35	chr1:85845200-85846200	Enhancers	HepG2	liver
36	chr1:85845200-85846200	Genic enhancers	HSMM	muscle

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