Variant report

Variant	rs3008632
Chromosome Location	chr1:222844477-222844478
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222844464..222847879-chr1:222884491..222887839,3	K562	blood:
2	chr1:222843901..222845494-chr1:222846340..222847859,2	K562	blood:

Variant related genes	Relation type
ENSG00000162819	Chromatin interaction
ENSG00000186063	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1053316	0.86[ASN][1000 genomes]
rs1986348	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291833	0.85[ASN][1000 genomes]
rs2936019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2936024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2936025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2936026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2936056	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2936057	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3002137	0.83[EUR][1000 genomes]
rs3002138	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3002140	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3002150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3008599	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3008600	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3008603	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3008605	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3008611	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3008613	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3008627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3008628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3008635	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3008639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34290674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34851033	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4379681	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73124815	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73124822	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73124862	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73124880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73124889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73124891	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73126803	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73126812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73126814	1.00[AMR][1000 genomes];1.00[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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222827000-222845400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222835200-222884600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222836600-222849600	Weak transcription	Stomach Mucosa	stomach
4	chr1:222839000-222844600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:222839000-222844800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:222839000-222844800	Weak transcription	Aorta	Aorta
7	chr1:222839000-222845400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:222839000-222849000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:222839000-222849000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:222839000-222854400	Weak transcription	Lung	lung
11	chr1:222839000-222859800	Weak transcription	Small Intestine	intestine
12	chr1:222839000-222877400	Weak transcription	Psoas Muscle	Psoas
13	chr1:222839000-222884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:222839200-222861200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:222839400-222845400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:222839600-222844800	Weak transcription	Pancreas	Pancrea
17	chr1:222839600-222844800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:222839600-222844800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:222839600-222884600	Weak transcription	Esophagus	oesophagus
20	chr1:222839800-222844600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:222839800-222847200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:222839800-222848800	Weak transcription	Right Ventricle	heart
23	chr1:222839800-222859600	Weak transcription	Brain Angular Gyrus	brain
24	chr1:222839800-222859600	Weak transcription	Fetal Brain Male	brain
25	chr1:222840000-222844600	Weak transcription	HSMMtube	muscle
26	chr1:222840000-222844800	Weak transcription	Fetal Kidney	kidney
27	chr1:222840000-222845800	Weak transcription	Brain Substantia Nigra	brain
28	chr1:222840000-222884600	Weak transcription	Colonic Mucosa	Colon
29	chr1:222840800-222844800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:222841000-222859600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:222841200-222844600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:222841200-222845000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:222841200-222845200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:222841200-222866200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:222841200-222883400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:222841400-222844600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:222841400-222844600	Weak transcription	GM12878-XiMat	blood
38	chr1:222841400-222844800	Weak transcription	Hela-S3	cervix
39	chr1:222841400-222844800	Weak transcription	NHEK	skin
40	chr1:222841400-222847400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:222841400-222847400	Weak transcription	HUVEC	blood vessel
42	chr1:222841400-222847400	Weak transcription	K562	blood
43	chr1:222841400-222848800	Weak transcription	Brain Anterior Caudate	brain
44	chr1:222841400-222883200	Weak transcription	Fetal Heart	heart
45	chr1:222841600-222844600	Weak transcription	Liver	Liver
46	chr1:222841600-222844800	Weak transcription	NHLF	lung
47	chr1:222842600-222850000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:222842600-222850000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:222842800-222846400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:222842800-222846400	Strong transcription	Rectal Mucosa Donor 31	rectum

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