Variant report

Variant	rs728568
Chromosome Location	chr3:112292438-112292439
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112285735..112289374-chr3:112291760..112294225,3	K562	blood:
2	chr3:112285735..112288489-chr3:112291503..112294225,2	K562	blood:
3	chr3:112281244..112282995-chr3:112290178..112292787,2	K562	blood:
4	chr3:112290282..112294480-chr3:112295112..112298665,4	K562	blood:
5	chr3:112289268..112293035-chr3:112358216..112361029,3	MCF-7	breast:
6	chr3:112290552..112292970-chr3:112296828..112298665,2	K562	blood:
7	chr3:112291247..112293623-chr3:112708463..112710312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272844	Chromatin interaction
ENSG00000138459	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000163607	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1105938	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155073	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12632867	0.81[CHB][hapmap]
rs1386895	0.81[CHB][hapmap]
rs1398091	0.92[JPT][hapmap];0.82[AMR][1000 genomes]
rs1488259	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1533159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1601852	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1814052	0.87[ASN][1000 genomes]
rs1844089	0.83[CHB][hapmap]
rs1873571	0.81[CHB][hapmap]
rs1873572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2137199	0.82[AMR][1000 genomes]
rs2171513	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs2171514	0.87[ASN][1000 genomes]
rs2292442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633562	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2633574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2633575	0.87[ASN][1000 genomes]
rs2633578	0.81[CHB][hapmap]
rs2633579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs2633580	0.81[CHB][hapmap]
rs2633582	0.83[CHB][hapmap]
rs2633588	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2633589	0.87[ASN][1000 genomes]
rs2638013	0.87[ASN][1000 genomes]
rs2638015	0.87[ASN][1000 genomes]
rs2638016	0.83[CHB][hapmap]
rs2638017	0.83[CHB][hapmap]
rs2638019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638022	0.81[CHB][hapmap]
rs2638023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2638026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2638028	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638031	0.81[CHB][hapmap]
rs2638032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638037	0.81[CHB][hapmap]
rs2638039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668215	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2668219	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705505	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2705507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2705515	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705517	0.81[CHB][hapmap]
rs2705518	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705519	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2705521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2705522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2705525	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2705534	0.81[CHB][hapmap]
rs2705535	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2705541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2705544	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs2705548	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705552	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2705559	0.83[CHB][hapmap]
rs2705560	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2705564	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[ASN][1000 genomes]
rs2705566	0.86[CHB][hapmap]
rs2933134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2933135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933137	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2942061	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952320	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952323	0.83[CHB][hapmap]
rs2952324	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2952325	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2952326	0.83[CHB][hapmap]
rs2952327	0.83[CHB][hapmap]
rs2969895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2969896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2971204	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs3112268	0.86[ASN][1000 genomes]
rs751875	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766969	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9869455	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs9869579	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs998036	0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112299400	Weak transcription	Left Ventricle	heart
2	chr3:112281800-112301600	Weak transcription	HepG2	liver
3	chr3:112281800-112312000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:112281800-112315400	Weak transcription	Pancreas	Pancrea
5	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
6	chr3:112281800-112325400	Weak transcription	Gastric	stomach
7	chr3:112282000-112312200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
10	chr3:112282200-112303400	Weak transcription	Psoas Muscle	Psoas
11	chr3:112282400-112299400	Weak transcription	Fetal Stomach	stomach
12	chr3:112282400-112301600	Weak transcription	Hela-S3	cervix
13	chr3:112282400-112304400	Weak transcription	Fetal Heart	heart
14	chr3:112282400-112306600	Weak transcription	Right Ventricle	heart
15	chr3:112282400-112307200	Weak transcription	Small Intestine	intestine
16	chr3:112282400-112312400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:112282400-112316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:112282400-112322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:112282600-112297200	Weak transcription	Thymus	Thymus
22	chr3:112282600-112298200	Weak transcription	NHEK	skin
23	chr3:112282600-112301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr3:112282600-112301400	Weak transcription	A549	lung
25	chr3:112282600-112306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:112282800-112292600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:112282800-112298600	Weak transcription	Brain Angular Gyrus	brain
28	chr3:112282800-112301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:112282800-112302200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:112283000-112299200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:112283000-112301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:112283000-112316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr3:112283600-112295800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:112283800-112295400	Strong transcription	Liver	Liver
35	chr3:112284000-112297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:112284000-112298600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:112284200-112293600	Strong transcription	Fetal Thymus	thymus
38	chr3:112284400-112294400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:112284600-112294600	Weak transcription	Fetal Intestine Small	intestine
40	chr3:112284800-112294200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:112285200-112293400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:112285200-112294400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:112285200-112294600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:112286200-112294200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr3:112286400-112293000	Strong transcription	Fetal Intestine Large	intestine
46	chr3:112286400-112293600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr3:112286400-112294000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:112286400-112294000	Strong transcription	Fetal Brain Female	brain
49	chr3:112286600-112293400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:112286600-112298000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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