Variant report

Variant	rs11102570
Chromosome Location	chr1:113506031-113506032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113500281..113502196-chr1:113505336..113508052,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11102547	1.00[EUR][1000 genomes]
rs11102564	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11102572	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11102587	1.00[EUR][1000 genomes]
rs12058371	1.00[EUR][1000 genomes]
rs12061638	1.00[EUR][1000 genomes]
rs12061679	1.00[EUR][1000 genomes]
rs12063125	1.00[EUR][1000 genomes]
rs12063286	1.00[EUR][1000 genomes]
rs12063903	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12063907	1.00[EUR][1000 genomes]
rs12066276	1.00[EUR][1000 genomes]
rs12066409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068534	1.00[EUR][1000 genomes]
rs12068812	1.00[EUR][1000 genomes]
rs12068820	1.00[EUR][1000 genomes]
rs12068935	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069411	1.00[EUR][1000 genomes]
rs12069981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075099	1.00[EUR][1000 genomes]
rs12075714	1.00[EUR][1000 genomes]
rs12078513	1.00[EUR][1000 genomes]
rs12079268	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079508	1.00[EUR][1000 genomes]
rs12079574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084281	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090558	1.00[EUR][1000 genomes]
rs12093541	1.00[EUR][1000 genomes]
rs1216782	1.00[EUR][1000 genomes]
rs1216786	1.00[EUR][1000 genomes]
rs1216787	1.00[EUR][1000 genomes]
rs17030888	1.00[EUR][1000 genomes]
rs60953496	1.00[AMR][1000 genomes]
rs6657174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676854	1.00[EUR][1000 genomes]
rs6680771	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6680949	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6699036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72996345	1.00[EUR][1000 genomes]
rs7511828	1.00[EUR][1000 genomes]
rs7513355	1.00[EUR][1000 genomes]
rs7518119	1.00[EUR][1000 genomes]
rs7530614	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540515	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7545283	1.00[EUR][1000 genomes]
rs7551138	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	59 gene(s)	inside rSNPs	diseases
14	esv1827123	chr1:113496841-113531848	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113499600-113525600	Weak transcription	Spleen	Spleen
2	chr1:113499800-113514800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:113500200-113509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:113500200-113524600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:113500200-113528600	Weak transcription	Lung	lung
6	chr1:113500200-113529000	Weak transcription	Esophagus	oesophagus
7	chr1:113500400-113520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:113500600-113507000	Weak transcription	Ovary	ovary
9	chr1:113500600-113507200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:113500600-113510000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:113500600-113510200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:113500600-113515000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:113500600-113535400	Weak transcription	Aorta	Aorta
14	chr1:113500800-113506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:113500800-113507000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:113500800-113507200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:113500800-113507400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:113500800-113509600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:113500800-113509800	Weak transcription	Fetal Intestine Small	intestine
20	chr1:113500800-113510200	Weak transcription	HSMMtube	muscle
21	chr1:113500800-113510400	Weak transcription	Brain Substantia Nigra	brain
22	chr1:113500800-113510400	Weak transcription	NH-A	brain
23	chr1:113500800-113515400	Weak transcription	Fetal Kidney	kidney
24	chr1:113500800-113515800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:113501000-113506800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:113501000-113506800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:113501000-113508600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:113501000-113508600	Weak transcription	Fetal Thymus	thymus
29	chr1:113501000-113508800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:113501000-113510000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:113501000-113510000	Weak transcription	Placenta	Placenta
32	chr1:113501000-113510200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:113501000-113510800	Weak transcription	Stomach Mucosa	stomach
34	chr1:113501000-113525600	Weak transcription	Brain Angular Gyrus	brain
35	chr1:113501200-113508400	Weak transcription	Left Ventricle	heart
36	chr1:113501600-113506400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:113501600-113507000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:113501600-113507200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:113501600-113508600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:113501600-113510200	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:113501600-113510200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:113501600-113512800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:113501600-113512800	Weak transcription	Colonic Mucosa	Colon
44	chr1:113501600-113515600	Weak transcription	Thymus	Thymus
45	chr1:113501800-113507000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:113501800-113508600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:113501800-113508800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:113501800-113510000	Weak transcription	NHLF	lung
49	chr1:113501800-113510200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:113501800-113510200	Weak transcription	Right Ventricle	heart

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