Variant report

Variant	rs10258403
Chromosome Location	chr7:138161687-138161688
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138064132..138065748-chr7:138161608..138163867,2	K562	blood:
2	chr7:138160365..138163276-chr7:138166698..138169786,4	K562	blood:
3	chr7:138144053..138146716-chr7:138160632..138162492,2	MCF-7	breast:
4	chr7:138160631..138163276-chr7:138165542..138169599,3	K562	blood:
5	chr7:138158061..138159634-chr7:138160119..138161798,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction
ENSG00000239123	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10216325	1.00[YRI][hapmap]
rs10224063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10226487	1.00[AMR][1000 genomes]
rs10227148	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10229430	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231698	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10232500	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	1.00[AMR][1000 genomes]
rs10237069	1.00[AMR][1000 genomes]
rs10237544	0.87[YRI][hapmap]
rs10237720	0.89[YRI][hapmap]
rs10239129	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10239202	1.00[YRI][hapmap]
rs10239932	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10240387	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241288	0.88[YRI][hapmap]
rs10243069	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10245088	0.89[YRI][hapmap]
rs10248027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248604	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10249171	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253989	0.80[YRI][hapmap]
rs10254196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10256094	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10256619	0.88[YRI][hapmap]
rs10256953	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261219	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261236	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs10262919	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	0.88[YRI][hapmap]
rs10268912	0.89[YRI][hapmap]
rs10272478	1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10281429	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1073255	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs13438570	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28361932	1.00[AMR][1000 genomes]
rs28407067	1.00[AMR][1000 genomes]
rs28435503	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28480333	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28514575	1.00[AMR][1000 genomes]
rs28546247	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28593099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	1.00[AMR][1000 genomes]
rs28608602	1.00[AMR][1000 genomes]
rs28653145	1.00[AMR][1000 genomes]
rs28688534	1.00[AMR][1000 genomes]
rs28691741	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694658	1.00[AMR][1000 genomes]
rs28706910	0.86[AFR][1000 genomes]
rs28707292	1.00[AMR][1000 genomes]
rs28714460	1.00[AMR][1000 genomes]
rs28824911	1.00[AMR][1000 genomes]
rs28850964	1.00[AMR][1000 genomes]
rs3847123	0.89[YRI][hapmap]
rs3847124	0.89[YRI][hapmap]
rs9986844	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138146800-138163200	Weak transcription	Aorta	Aorta
2	chr7:138147000-138162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:138147000-138162400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:138147000-138165000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:138147200-138163200	Weak transcription	Fetal Thymus	thymus
6	chr7:138147200-138168400	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:138147200-138183800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:138147200-138189000	Weak transcription	Thymus	Thymus
9	chr7:138148200-138163000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:138148200-138164200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:138149800-138188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:138153800-138161800	Weak transcription	Small Intestine	intestine
13	chr7:138153800-138163200	Weak transcription	Left Ventricle	heart
14	chr7:138153800-138166200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:138153800-138184200	Weak transcription	Fetal Stomach	stomach
16	chr7:138154000-138161800	Weak transcription	Brain Angular Gyrus	brain
17	chr7:138154800-138163800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:138154800-138167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:138155200-138184200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:138155800-138162000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:138156000-138162200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:138156000-138165200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:138157000-138165200	Enhancers	Liver	Liver
24	chr7:138157600-138162400	Weak transcription	Fetal Lung	lung
25	chr7:138157600-138163400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:138157600-138163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:138157600-138164200	Weak transcription	Pancreas	Pancrea
28	chr7:138157600-138191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:138157800-138166800	Weak transcription	Right Atrium	heart
30	chr7:138159400-138163600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:138159400-138165400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:138159800-138162400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:138159800-138163000	Weak transcription	Primary T cells from cord blood	blood
34	chr7:138159800-138163200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:138159800-138163800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:138160000-138161800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:138160000-138162200	Weak transcription	Brain Substantia Nigra	brain
38	chr7:138160200-138175000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:138160400-138161800	Weak transcription	Stomach Mucosa	stomach
40	chr7:138160600-138161800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:138160600-138162400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:138160600-138163000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:138160600-138163200	Weak transcription	Ovary	ovary
44	chr7:138160600-138164200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:138160600-138164200	Weak transcription	Lung	lung
46	chr7:138160600-138168400	Weak transcription	Gastric	stomach
47	chr7:138160600-138182200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:138161000-138163200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:138161200-138163200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:138161200-138163800	Enhancers	Primary T helper cells fromperipheralblood	blood

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