Variant report

Variant	rs851777
Chromosome Location	chr1:242004797-242004798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241994559..242000368-chr1:242001953..242006186,6	K562	blood:
2	chr1:241910812..241913267-chr1:242003665..242006640,2	K562	blood:
3	chr1:241977423..241979473-chr1:242003229..242004895,2	K562	blood:

Variant related genes	Relation type
ENSG00000162843	Chromatin interaction
ENSG00000229022	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10047251	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs10926568	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs10926570	1.00[ASN][1000 genomes]
rs10926572	0.94[CEU][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs10926574	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs11587777	1.00[ASN][1000 genomes]
rs11589447	1.00[ASN][1000 genomes]
rs12058955	1.00[ASN][1000 genomes]
rs12060174	1.00[ASN][1000 genomes]
rs12068835	1.00[ASN][1000 genomes]
rs12074374	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs12075350	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs12080931	1.00[ASN][1000 genomes]
rs12082827	1.00[ASN][1000 genomes]
rs12088589	1.00[ASN][1000 genomes]
rs12088920	1.00[CHB][hapmap]
rs12091522	1.00[ASN][1000 genomes]
rs12091633	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12092046	1.00[ASN][1000 genomes]
rs12094877	1.00[ASN][1000 genomes]
rs12095445	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13375851	1.00[ASN][1000 genomes]
rs13375852	1.00[ASN][1000 genomes]
rs13375989	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1342867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1635523	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129119	1.00[ASN][1000 genomes]
rs4658798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145959	1.00[ASN][1000 genomes]
rs57034241	1.00[ASN][1000 genomes]
rs57776943	1.00[ASN][1000 genomes]
rs58903593	1.00[ASN][1000 genomes]
rs61825849	1.00[ASN][1000 genomes]
rs61827077	1.00[ASN][1000 genomes]
rs61827078	1.00[ASN][1000 genomes]
rs61827080	1.00[ASN][1000 genomes]
rs61827081	1.00[ASN][1000 genomes]
rs61827082	1.00[ASN][1000 genomes]
rs61827083	1.00[ASN][1000 genomes]
rs61827089	1.00[ASN][1000 genomes]
rs61827118	1.00[ASN][1000 genomes]
rs61827120	1.00[ASN][1000 genomes]
rs61827121	1.00[ASN][1000 genomes]
rs61827122	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429298	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs6429299	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6429302	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6429309	1.00[ASN][1000 genomes]
rs6429310	1.00[ASN][1000 genomes]
rs6429311	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6660576	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6660686	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6663895	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6665240	1.00[ASN][1000 genomes]
rs6667348	1.00[ASN][1000 genomes]
rs6667772	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6669947	1.00[ASN][1000 genomes]
rs6670605	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6671725	1.00[ASN][1000 genomes]
rs6675602	1.00[ASN][1000 genomes]
rs6678028	1.00[ASN][1000 genomes]
rs6685969	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs6690241	1.00[ASN][1000 genomes]
rs6694094	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6698158	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6703922	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72770245	1.00[ASN][1000 genomes]
rs72770248	1.00[ASN][1000 genomes]
rs7514880	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs7524386	1.00[CEU][hapmap]
rs7526450	1.00[CEU][hapmap]
rs7533124	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7533422	1.00[ASN][1000 genomes]
rs7535614	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540780	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552731	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7554579	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7554877	1.00[ASN][1000 genomes]
rs866455	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9428522	0.93[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9428523	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9428526	1.00[CEU][hapmap]
rs9428890	1.00[CHB][hapmap]
rs9428896	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241998200-242005600	Weak transcription	K562	blood
2	chr1:242001400-242004800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:242001400-242005600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:242001400-242005600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:242001600-242010400	Weak transcription	HMEC	breast
6	chr1:242001800-242005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:242001800-242010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:242001800-242010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:242002000-242005200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:242002600-242005000	Weak transcription	HSMM	muscle
11	chr1:242002600-242005000	Weak transcription	NHDF-Ad	bronchial
12	chr1:242002600-242005400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:242002800-242005000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:242002800-242005200	Weak transcription	Osteobl	bone
15	chr1:242002800-242005600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:242003000-242005200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:242003000-242005200	Weak transcription	NHLF	lung
18	chr1:242003000-242005600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:242003000-242005600	Weak transcription	NHEK	skin
20	chr1:242003200-242005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:242003200-242005800	Weak transcription	A549	lung
22	chr1:242003200-242008200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:242003400-242010400	Weak transcription	GM12878-XiMat	blood
24	chr1:242004400-242005400	Enhancers	HSMMtube	muscle

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