Variant report

Variant	rs10011926
Chromosome Location	chr4:111026927-111026928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111026921..111029584-chr4:111032087..111034915,2	MCF-7	breast:
2	chr4:111024626..111026930-chr4:111043422..111044957,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10012789	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012828	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018930	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10032613	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10033229	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs10034148	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1034668	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11937187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13435887	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1468219	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1482469	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1964208	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1964209	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964210	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964211	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2057695	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2106995	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28730909	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733623	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698810	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6850449	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718816	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7655273	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7668562	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7668795	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7669237	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7674189	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9992608	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Attention deficit hyperactivity disorder	20732626	GWAS catalog

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
2	chr4:111010000-111027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:111010000-111028000	Weak transcription	HepG2	liver
4	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:111012800-111027800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:111013000-111040400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:111013400-111027200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:111013600-111027400	Weak transcription	NH-A	brain
9	chr4:111013600-111027600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:111013600-111027600	Weak transcription	NHLF	lung
11	chr4:111013600-111040400	Weak transcription	Fetal Kidney	kidney
12	chr4:111019000-111027800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:111020600-111028600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:111022000-111028000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:111022800-111027800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:111023400-111027600	Weak transcription	Hela-S3	cervix
17	chr4:111023400-111029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:111023600-111027600	Weak transcription	A549	lung
19	chr4:111023600-111027800	Weak transcription	Pancreas	Pancrea
20	chr4:111023800-111027200	Weak transcription	Stomach Mucosa	stomach
21	chr4:111023800-111037000	Weak transcription	Primary T cells from cord blood	blood
22	chr4:111024200-111049800	Weak transcription	Fetal Stomach	stomach
23	chr4:111024800-111027000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:111024800-111027200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:111025000-111027400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:111025000-111027600	Weak transcription	Small Intestine	intestine
27	chr4:111025800-111028000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:111026000-111027800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:111026000-111061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:111026200-111027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:111026200-111027400	Weak transcription	Gastric	stomach
32	chr4:111026200-111027600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:111026200-111027600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:111026200-111027800	Weak transcription	Aorta	Aorta
35	chr4:111026200-111028400	Enhancers	Brain Germinal Matrix	brain
36	chr4:111026400-111027000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:111026400-111027000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:111026400-111027400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:111026400-111027400	Weak transcription	Fetal Heart	heart
40	chr4:111026400-111027400	Weak transcription	Placenta	Placenta
41	chr4:111026400-111027600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:111026400-111027600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:111026400-111027600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:111026400-111027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:111026400-111027800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:111026400-111027800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:111026400-111027800	Weak transcription	HSMM	muscle
48	chr4:111026400-111037400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:111026400-111041200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:111026400-111046000	Weak transcription	Left Ventricle	heart

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