Variant report

Variant	rs17307170
Chromosome Location	chr21:17137572-17137573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17135749..17138458-chr21:17138787..17141062,2	K562	blood:
2	chr21:17114779..17116844-chr21:17137074..17138622,2	K562	blood:
3	chr21:17136575..17138278-chr21:17138392..17140669,2	MCF-7	breast:
4	chr21:17131546..17134772-chr21:17136356..17138734,3	MCF-7	breast:
5	chr21:17135749..17138458-chr21:17138787..17142045,4	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10482875	0.90[AMR][1000 genomes]
rs10482876	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910884	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs1543299	0.88[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17241409	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17241416	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17241423	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17241430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17241444	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17241460	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17241481	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17275511	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17307120	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17307176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17307190	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17307197	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17307204	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2026853	1.00[CEU][hapmap]
rs2205585	0.81[EUR][1000 genomes]
rs2205588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2223176	0.81[EUR][1000 genomes]
rs2242676	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242677	0.98[ASN][1000 genomes]
rs2242680	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2242681	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2245574	0.88[CEU][hapmap]
rs2404000	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2823455	0.88[CEU][hapmap];0.86[ASN][1000 genomes]
rs2823462	0.85[EUR][1000 genomes]
rs2823463	0.86[EUR][1000 genomes]
rs2823471	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2823472	0.88[CEU][hapmap]
rs2823478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823481	0.82[CHB][hapmap]
rs2823484	0.82[CHB][hapmap]
rs2823489	0.88[CEU][hapmap]
rs2823491	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2823493	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2823495	0.81[EUR][1000 genomes]
rs2823496	0.81[EUR][1000 genomes]
rs2823498	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2823499	1.00[CEU][hapmap]
rs2823500	1.00[CEU][hapmap]
rs2823504	0.88[CEU][hapmap]
rs28627435	0.89[EUR][1000 genomes]
rs3787577	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4580465	0.83[EUR][1000 genomes]
rs55806628	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56299770	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56333224	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56410772	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56666611	0.97[EUR][1000 genomes]
rs57733106	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57737796	0.86[ASN][1000 genomes]
rs59084861	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59420372	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60191002	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60360638	0.93[ASN][1000 genomes]
rs60529604	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6517609	0.88[CEU][hapmap]
rs6517613	0.88[CEU][hapmap]
rs6517648	1.00[CEU][hapmap]
rs6517652	1.00[CEU][hapmap]
rs6517675	0.86[ASN][1000 genomes]
rs7277807	0.91[EUR][1000 genomes]
rs7281511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7282314	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7283707	1.00[CEU][hapmap]
rs7283764	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73181987	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73346766	0.86[ASN][1000 genomes]
rs73346769	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73355479	0.94[EUR][1000 genomes]
rs73357260	0.97[EUR][1000 genomes]
rs8127158	0.88[CEU][hapmap]
rs8128073	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8133079	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8134327	0.88[CEU][hapmap]
rs9976815	0.95[ASN][1000 genomes]
rs9981766	0.81[EUR][1000 genomes]
rs9983542	0.85[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
2	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
5	chr21:17122600-17142800	Weak transcription	Hela-S3	cervix
6	chr21:17125800-17153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:17126800-17147600	Weak transcription	Placenta	Placenta
8	chr21:17127000-17147400	Weak transcription	HSMMtube	muscle
9	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr21:17127200-17139400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr21:17127200-17140800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:17127200-17153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:17127400-17146200	Weak transcription	NHDF-Ad	bronchial
14	chr21:17127400-17147800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:17127400-17153400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr21:17127600-17145200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:17127800-17139400	Weak transcription	Fetal Kidney	kidney
18	chr21:17127800-17141600	Weak transcription	HMEC	breast
19	chr21:17127800-17152800	Weak transcription	Fetal Intestine Large	intestine
20	chr21:17128000-17139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:17128200-17139600	Weak transcription	Brain Anterior Caudate	brain
22	chr21:17128400-17138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:17128800-17139400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:17128800-17139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr21:17130800-17140400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:17130800-17156800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr21:17131000-17139400	Weak transcription	HSMM	muscle
28	chr21:17132800-17139400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:17132800-17139400	Weak transcription	K562	blood
30	chr21:17132800-17153400	Weak transcription	Spleen	Spleen
31	chr21:17133600-17139600	Weak transcription	Fetal Heart	heart
32	chr21:17133800-17139400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr21:17133800-17145800	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:17133800-17149400	Weak transcription	Small Intestine	intestine
35	chr21:17134000-17137800	Weak transcription	Adipose Nuclei	Adipose
36	chr21:17134000-17138200	Weak transcription	Dnd41	blood
37	chr21:17134000-17139000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:17134000-17139400	Weak transcription	Fetal Lung	lung
39	chr21:17134000-17139400	Weak transcription	Left Ventricle	heart
40	chr21:17134000-17140600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr21:17134000-17143600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr21:17134000-17143600	Weak transcription	Gastric	stomach
43	chr21:17134000-17147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr21:17134000-17152400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr21:17134000-17153400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:17134200-17139400	Weak transcription	Pancreas	Pancrea
47	chr21:17134200-17139400	Weak transcription	Right Ventricle	heart
48	chr21:17134200-17142200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr21:17134200-17143400	Weak transcription	Right Atrium	heart
50	chr21:17134200-17143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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