Variant report

Variant	rs10916285
Chromosome Location	chr1:228418046-228418047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228418003..228421398-chr1:228446860..228450247,3	K562	blood:
2	chr1:228416742..228420360-chr1:228423118..228426158,4	K562	blood:
3	chr1:228413238..228414858-chr1:228417305..228419421,2	MCF-7	breast:
4	chr1:228413818..228415485-chr1:228417665..228419917,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10157526	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10157758	1.00[EUR][1000 genomes]
rs10916279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916281	0.83[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10916282	0.83[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916287	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10916288	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1108210	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12059144	0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs12059810	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12061320	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs12066906	0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077365	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12080655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085304	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12094813	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16848390	1.00[EUR][1000 genomes]
rs16848404	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848415	1.00[EUR][1000 genomes]
rs16848419	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55706639	0.85[ASN][1000 genomes]
rs61537173	1.00[EUR][1000 genomes]
rs6660457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694419	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised 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 miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
9	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228402200-228425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:228402200-228428800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:228403000-228428200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:228411800-228420200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:228412400-228420400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:228412600-228420800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:228413000-228425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:228413000-228426000	Weak transcription	Right Atrium	heart
9	chr1:228413000-228428400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:228413000-228428800	Weak transcription	Gastric	stomach
11	chr1:228413200-228418200	Weak transcription	Fetal Kidney	kidney
12	chr1:228413200-228420200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:228413200-228422400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:228413200-228424400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:228413200-228426200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:228413400-228421000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:228413400-228426000	Weak transcription	Fetal Brain Male	brain
18	chr1:228413600-228418400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:228413600-228419200	Weak transcription	HSMMtube	muscle
20	chr1:228413600-228420400	Weak transcription	Primary B cells from cord blood	blood
21	chr1:228413600-228422200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:228413600-228428800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:228413800-228428600	Weak transcription	Pancreas	Pancrea
24	chr1:228413800-228429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:228414000-228419600	Weak transcription	A549	lung
26	chr1:228414000-228419800	Weak transcription	Fetal Heart	heart
27	chr1:228414200-228418800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:228414400-228420200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:228414400-228420200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:228414400-228426000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:228414400-228426200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:228414400-228430400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:228415000-228421600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:228415200-228426000	Weak transcription	Spleen	Spleen
35	chr1:228415400-228420200	Weak transcription	Aorta	Aorta
36	chr1:228415400-228420200	Weak transcription	Lung	lung
37	chr1:228415800-228420200	Weak transcription	Fetal Intestine Small	intestine
38	chr1:228415800-228426000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:228416000-228418400	Weak transcription	Psoas Muscle	Psoas
40	chr1:228416000-228419400	Weak transcription	Right Ventricle	heart
41	chr1:228416000-228420000	Weak transcription	Fetal Intestine Large	intestine
42	chr1:228416000-228420200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:228416200-228419400	Weak transcription	Left Ventricle	heart
44	chr1:228416200-228419800	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:228416200-228420000	Weak transcription	Fetal Stomach	stomach
46	chr1:228416200-228420000	Weak transcription	Thymus	Thymus
47	chr1:228416200-228424400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:228416200-228426000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:228416400-228420200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:228416400-228424200	Weak transcription	Fetal Muscle Trunk	muscle

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