Variant report

Variant	rs11585491
Chromosome Location	chr1:228446993-228446994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228446358..228449108-chr1:228455290..228457930,3	K562	blood:
2	chr1:228418003..228421398-chr1:228446860..228450247,3	K562	blood:
3	chr1:228445781..228449688-chr1:228450143..228453415,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11581037	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11582369	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11586055	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771486	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3820627	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61501937	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61560753	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
11	nsv873264	chr1:228423647-228543800	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv520340	chr1:228423936-228456147	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv873265	chr1:228434395-228525008	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv873266	chr1:228434395-228537942	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv873267	chr1:228434395-228585837	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv873268	chr1:228442663-228537942	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv873269	chr1:228442663-228543800	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228430600-228447000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:228433400-228449400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:228434600-228455400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:228434800-228460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:228434800-228462400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:228435200-228449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:228435200-228449600	Strong transcription	Primary T cells from cord blood	blood
8	chr1:228435200-228462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:228435600-228462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:228435800-228450200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:228436800-228447000	Weak transcription	Psoas Muscle	Psoas
12	chr1:228437000-228455600	Weak transcription	Hela-S3	cervix
13	chr1:228438400-228447000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:228438400-228455600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:228439200-228449400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:228439800-228448800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:228440200-228447000	Weak transcription	Right Atrium	heart
18	chr1:228441200-228450400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:228442600-228448200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:228443000-228449200	Strong transcription	Right Ventricle	heart
21	chr1:228443000-228449400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:228443200-228454800	Strong transcription	Left Ventricle	heart
23	chr1:228443400-228447000	Strong transcription	Fetal Lung	lung
24	chr1:228443400-228447000	Strong transcription	Thymus	Thymus
25	chr1:228443400-228448000	ZNF genes & repeats	Fetal Stomach	stomach
26	chr1:228443400-228449200	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr1:228443400-228449400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:228443400-228449800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:228443600-228462800	Weak transcription	Fetal Kidney	kidney
30	chr1:228443800-228447400	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr1:228443800-228449000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:228444000-228448000	Strong transcription	HSMMtube	muscle
33	chr1:228444000-228461400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:228444200-228447000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:228444200-228461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:228444400-228447000	Weak transcription	Ovary	ovary
37	chr1:228444400-228450000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr1:228444600-228447000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:228444600-228447200	Weak transcription	Fetal Intestine Large	intestine
40	chr1:228444600-228450000	ZNF genes & repeats	Dnd41	blood
41	chr1:228444800-228447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:228444800-228454200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:228444800-228462800	Weak transcription	Fetal Thymus	thymus
44	chr1:228445000-228447000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:228445000-228447000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:228445000-228447000	Weak transcription	Gastric	stomach
47	chr1:228445000-228447000	Weak transcription	Spleen	Spleen
48	chr1:228445000-228447200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:228445000-228447200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:228445000-228448000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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