Variant report

Variant	rs17241430
Chromosome Location	chr21:17139824-17139825
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17101984..17103858-chr21:17138166..17141099,3	K562	blood:
2	chr21:17135749..17138458-chr21:17138787..17141062,2	K562	blood:
3	chr21:17139183..17140756-chr21:17159660..17161320,2	K562	blood:
4	chr21:17135749..17138458-chr21:17138787..17142045,4	K562	blood:
5	chr21:17136575..17138278-chr21:17138392..17140669,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10482875	0.83[CEU][hapmap]
rs10482876	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11910884	0.90[CEU][hapmap]
rs1543299	0.91[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17241409	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17241416	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17241423	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17241444	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17241460	0.82[EUR][1000 genomes]
rs17241481	0.82[EUR][1000 genomes]
rs17275511	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17307120	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs17307170	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17307176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17307190	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17307197	0.82[EUR][1000 genomes]
rs17307204	0.82[EUR][1000 genomes]
rs2026853	1.00[CEU][hapmap]
rs2205588	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2242676	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242677	0.98[ASN][1000 genomes]
rs2242680	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2242681	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2245574	0.91[CEU][hapmap]
rs2404000	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2404001	0.83[CEU][hapmap]
rs2823455	0.91[CEU][hapmap];0.86[ASN][1000 genomes]
rs2823462	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2823463	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs2823471	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2823472	0.91[CEU][hapmap]
rs2823478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823481	0.82[CHB][hapmap]
rs2823484	0.82[CHB][hapmap]
rs2823489	0.91[CEU][hapmap]
rs2823491	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2823493	1.00[CEU][hapmap]
rs2823498	0.80[EUR][1000 genomes]
rs2823499	1.00[CEU][hapmap]
rs2823500	1.00[CEU][hapmap]
rs2823504	0.91[CEU][hapmap]
rs28627435	0.88[EUR][1000 genomes]
rs3787577	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4580465	0.82[EUR][1000 genomes]
rs55806628	0.91[ASN][1000 genomes]
rs56299770	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56333224	0.89[EUR][1000 genomes]
rs56410772	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56666611	0.95[EUR][1000 genomes]
rs57733106	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57737796	0.86[ASN][1000 genomes]
rs59084861	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59420372	0.93[ASN][1000 genomes]
rs60191002	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60360638	0.93[ASN][1000 genomes]
rs60529604	0.89[EUR][1000 genomes]
rs6517609	0.91[CEU][hapmap]
rs6517613	0.91[CEU][hapmap]
rs6517648	1.00[CEU][hapmap]
rs6517652	1.00[CEU][hapmap]
rs6517675	0.86[ASN][1000 genomes]
rs7277807	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs7278428	0.83[CEU][hapmap]
rs7281511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7282314	0.89[EUR][1000 genomes]
rs7283707	1.00[CEU][hapmap]
rs7283764	0.83[CEU][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73181987	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73346766	0.86[ASN][1000 genomes]
rs73346769	0.86[ASN][1000 genomes]
rs73355479	0.92[EUR][1000 genomes]
rs73357260	0.95[EUR][1000 genomes]
rs8127158	0.91[CEU][hapmap]
rs8128073	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8133079	0.82[EUR][1000 genomes]
rs8134327	0.91[CEU][hapmap]
rs9976815	0.95[ASN][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:109 , 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	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
3	chr21:17122600-17142800	Weak transcription	Hela-S3	cervix
4	chr21:17125800-17153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:17126800-17147600	Weak transcription	Placenta	Placenta
6	chr21:17127000-17147400	Weak transcription	HSMMtube	muscle
7	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:17127200-17140800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:17127200-17153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:17127400-17146200	Weak transcription	NHDF-Ad	bronchial
11	chr21:17127400-17147800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:17127400-17153400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:17127600-17145200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:17127800-17141600	Weak transcription	HMEC	breast
15	chr21:17127800-17152800	Weak transcription	Fetal Intestine Large	intestine
16	chr21:17130800-17140400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:17130800-17156800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr21:17132800-17153400	Weak transcription	Spleen	Spleen
19	chr21:17133800-17145800	Weak transcription	Colon Smooth Muscle	Colon
20	chr21:17133800-17149400	Weak transcription	Small Intestine	intestine
21	chr21:17134000-17140600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr21:17134000-17143600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr21:17134000-17143600	Weak transcription	Gastric	stomach
24	chr21:17134000-17147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:17134000-17152400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:17134000-17153400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:17134200-17142200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:17134200-17143400	Weak transcription	Right Atrium	heart
29	chr21:17134200-17143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr21:17134200-17153000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr21:17134200-17153400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr21:17134200-17154000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr21:17134400-17143600	Weak transcription	Lung	lung
34	chr21:17134400-17153200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:17134600-17140400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr21:17134600-17143800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr21:17135000-17145000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr21:17135000-17152600	Weak transcription	Primary T cells from cord blood	blood
39	chr21:17135000-17153000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:17135000-17153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr21:17135000-17153600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr21:17135200-17142400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr21:17135200-17153000	Weak transcription	Fetal Muscle Leg	muscle
44	chr21:17135400-17140200	Strong transcription	Primary B cells from cord blood	blood
45	chr21:17135400-17153200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr21:17135600-17153200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr21:17135800-17147200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:17136000-17145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:17136600-17141800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr21:17136600-17148400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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