Variant report

Variant	rs13231139
Chromosome Location	chr7:128847022-128847023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:128846891-128847083	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SMO	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1061275	0.96[EUR][1000 genomes]
rs1061282	0.96[EUR][1000 genomes]
rs1061283	0.96[EUR][1000 genomes]
rs12706870	0.80[EUR][1000 genomes]
rs13221770	1.00[CEU][hapmap]
rs13223446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs13225516	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs13229264	0.80[EUR][1000 genomes]
rs13235047	0.80[EUR][1000 genomes]
rs13236334	0.80[EUR][1000 genomes]
rs13240434	0.80[EUR][1000 genomes]
rs13241894	0.80[EUR][1000 genomes]
rs13242728	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13242765	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs13245719	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs13246455	1.00[CEU][hapmap]
rs2016607	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs2703099	1.00[JPT][hapmap]
rs34100080	0.80[EUR][1000 genomes]
rs34535486	0.80[EUR][1000 genomes]
rs34643315	0.80[EUR][1000 genomes]
rs34853082	0.80[EUR][1000 genomes]
rs34894139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34989446	0.96[EUR][1000 genomes]
rs35239026	0.80[EUR][1000 genomes]
rs35678076	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35695777	0.80[EUR][1000 genomes]
rs4731559	1.00[JPT][hapmap]
rs56358283	1.00[AFR][1000 genomes]
rs71577835	0.80[EUR][1000 genomes]
rs71577849	0.80[EUR][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	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
2	chr7:128831200-128849400	Weak transcription	Fetal Thymus	thymus
3	chr7:128834600-128853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:128839600-128853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128840800-128854200	Strong transcription	Fetal Stomach	stomach
6	chr7:128841400-128848400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:128841400-128850200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr7:128841400-128853400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:128841400-128855600	Weak transcription	HSMM	muscle
10	chr7:128842000-128853400	Strong transcription	Fetal Intestine Small	intestine
11	chr7:128842400-128853400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:128842600-128850400	Weak transcription	Gastric	stomach
14	chr7:128843000-128853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:128843000-128853400	Strong transcription	Fetal Muscle Leg	muscle
16	chr7:128843200-128852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:128843200-128853400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:128843400-128847800	Strong transcription	Fetal Lung	lung
20	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
21	chr7:128843600-128850200	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:128843600-128858200	Weak transcription	Dnd41	blood
23	chr7:128843800-128851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:128843800-128852600	Weak transcription	Lung	lung
25	chr7:128843800-128853800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:128844400-128853200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:128844600-128848800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:128844600-128852800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:128844600-128853200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:128844600-128853400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:128844600-128853400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:128844600-128863800	Weak transcription	Fetal Brain Male	brain
33	chr7:128844800-128847600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:128844800-128847600	Strong transcription	Ovary	ovary
35	chr7:128844800-128849800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:128844800-128850200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:128844800-128853000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr7:128844800-128853000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:128844800-128853200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:128844800-128853200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:128844800-128864000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:128845000-128847200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:128845000-128847600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:128845000-128847600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:128845000-128849600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:128845000-128851600	Strong transcription	HepG2	liver
47	chr7:128845000-128852800	Strong transcription	Fetal Intestine Large	intestine
48	chr7:128845000-128853200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:128845200-128847200	Strong transcription	Right Ventricle	heart
50	chr7:128845200-128847800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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