Variant report

Variant	rs648877
Chromosome Location	chr1:227283614-227283615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227256237..227258373-chr1:227281662..227284397,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10495253	0.80[AMR][1000 genomes]
rs10799381	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039370	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12139758	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1320494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1929858	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102634	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482454	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2492630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670462	0.80[AMR][1000 genomes]
rs2813947	0.80[AMR][1000 genomes]
rs2813948	0.80[AMR][1000 genomes]
rs2813950	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs3754418	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4351610	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4653479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485234	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs488104	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56219094	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6662583	0.83[AMR][1000 genomes]
rs6682472	0.80[AMR][1000 genomes]
rs6682642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692080	0.80[AMR][1000 genomes]
rs6697665	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs6699828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs689094	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694740	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7412928	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7521110	0.83[AMR][1000 genomes]
rs7521639	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7523167	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7543579	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7549520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
4	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:227226800-227285600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:227227400-227284200	Weak transcription	Brain Angular Gyrus	brain
8	chr1:227236000-227286200	Weak transcription	Fetal Brain Male	brain
9	chr1:227240000-227286800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:227247400-227299800	Weak transcription	HMEC	breast
11	chr1:227251000-227300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:227257600-227288000	Weak transcription	HSMMtube	muscle
13	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
15	chr1:227260400-227287800	Weak transcription	NHEK	skin
16	chr1:227261400-227287800	Weak transcription	Osteobl	bone
17	chr1:227268800-227287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:227271800-227286600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:227271800-227286800	Weak transcription	NHDF-Ad	bronchial
20	chr1:227271800-227287800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:227271800-227288000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:227271800-227299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:227272000-227285800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:227272600-227286400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:227272600-227294400	Weak transcription	Fetal Heart	heart
26	chr1:227272800-227285200	Weak transcription	Psoas Muscle	Psoas
27	chr1:227272800-227295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:227272800-227295000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:227272800-227331000	Weak transcription	Lung	lung
30	chr1:227273000-227286400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:227273000-227312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:227274600-227285200	Weak transcription	Left Ventricle	heart
33	chr1:227275400-227287000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:227275800-227302600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:227277000-227288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:227277200-227286400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:227277200-227302600	Weak transcription	Brain Substantia Nigra	brain
38	chr1:227279000-227284200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:227279200-227284400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:227279200-227284600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:227279200-227286000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:227279200-227286000	Weak transcription	Adipose Nuclei	Adipose
43	chr1:227279200-227286200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:227279200-227286400	Weak transcription	Ovary	ovary
45	chr1:227279200-227286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:227279200-227286600	Weak transcription	Fetal Lung	lung
47	chr1:227279200-227287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:227279200-227287800	Weak transcription	Aorta	Aorta
49	chr1:227279200-227287800	Weak transcription	Brain Anterior Caudate	brain
50	chr1:227279200-227287800	Weak transcription	Fetal Stomach	stomach

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