Variant report

Variant	rs1568310
Chromosome Location	chr2:85975013-85975014
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:85974790-85975833	GM12878	blood:	n/a	n/a
2	SPI1	chr2:85974957-85975471	HL-60	blood:	n/a	n/a
3	SPI1	chr2:85975010-85975589	GM12891	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85964549..85967309-chr2:85973437..85975079,2	K562	blood:
2	chr2:85968047..85970017-chr2:85974638..85977440,3	MCF-7	breast:
3	chr2:85974895..85977251-chr2:85979669..85982640,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATOH8-3	chr2:85974864-85975170	l_1877_chr2:85969788-85975170_thyroid

No data

Variant related genes	Relation type
ATOH8	TF binding region
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10172667	0.92[CHB][hapmap]
rs1111527	0.93[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11126998	0.93[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs1356621	0.93[CEU][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1356622	0.93[CEU][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1356623	0.93[CEU][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1356624	0.93[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1465822	0.93[CEU][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1465823	0.93[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1473275	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2118401	0.93[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2366816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832007	0.93[CEU][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes]
rs4832008	0.93[CEU][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4832190	0.93[CEU][hapmap]
rs4832191	0.93[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs732155	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7557287	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7567852	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85971600-85975400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
3	chr2:85972200-85976200	Weak transcription	Gastric	stomach
4	chr2:85972400-85975800	Weak transcription	Hela-S3	cervix
5	chr2:85972400-85976200	Weak transcription	Stomach Mucosa	stomach
6	chr2:85972400-85976800	Enhancers	Primary B cells from cord blood	blood
7	chr2:85972400-85978200	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:85972800-85975400	Weak transcription	Liver	Liver
9	chr2:85972800-85975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:85972800-85975800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:85972800-85976000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:85972800-85977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:85973000-85977800	Weak transcription	Brain Germinal Matrix	brain
14	chr2:85973000-85979000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:85973200-85976000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:85973400-85980200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr2:85973600-85975800	Weak transcription	Aorta	Aorta
18	chr2:85973600-85976000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:85973800-85975200	Weak transcription	Psoas Muscle	Psoas
20	chr2:85973800-85975200	Weak transcription	Right Ventricle	heart
21	chr2:85973800-85975400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:85973800-85975600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:85973800-85975800	Weak transcription	HSMM	muscle
24	chr2:85973800-85976000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:85973800-85976000	Weak transcription	Brain Anterior Caudate	brain
26	chr2:85973800-85976000	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:85973800-85976000	Weak transcription	Ovary	ovary
28	chr2:85973800-85976000	Weak transcription	Spleen	Spleen
29	chr2:85973800-85976600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:85973800-85977800	Weak transcription	Esophagus	oesophagus
31	chr2:85974000-85975200	Weak transcription	Fetal Lung	lung
32	chr2:85974000-85975400	Weak transcription	Thymus	Thymus
33	chr2:85974000-85975800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:85974000-85975800	Weak transcription	NHDF-Ad	bronchial
35	chr2:85974000-85976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:85974000-85976200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:85974200-85975400	Weak transcription	Fetal Thymus	thymus
38	chr2:85974200-85975600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:85974200-85976000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:85974400-85975200	Enhancers	Osteobl	bone
41	chr2:85974400-85975400	Weak transcription	Lung	lung
42	chr2:85974400-85975800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:85974600-85975200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:85974600-85975400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:85974600-85975400	Weak transcription	Left Ventricle	heart
46	chr2:85974600-85976400	ZNF genes & repeats	GM12878-XiMat	blood
47	chr2:85974600-85976800	Enhancers	Right Atrium	heart
48	chr2:85974600-85977600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:85974800-85975600	Weak transcription	Brain Substantia Nigra	brain
50	chr2:85974800-85975800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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