Variant report

Variant	rs10914143
Chromosome Location	chr1:180932973-180932974
allele	A/G
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	FOS	chr1:180932813-180933013	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:180921163..180924034-chr1:180930743..180932979,2	MCF-7	breast:
2	chr1:180924451..180927761-chr1:180928276..180933255,6	MCF-7	breast:
3	chr1:180931171..180933343-chr1:180934751..180937015,2	K562	blood:
4	chr1:180920141..180924832-chr1:180927695..180934337,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251520	TF binding region
ENSG00000232586	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10737352	0.88[AFR][1000 genomes]
rs10753230	0.86[AFR][1000 genomes]
rs10753231	0.89[CHD][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs10798796	0.90[YRI][hapmap]
rs10914142	0.89[CHD][hapmap];0.84[JPT][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap]
rs12022368	1.00[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12145907	0.89[CHD][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs3737061	0.84[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs3737062	0.89[CHD][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs3795502	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3820314	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4651079	0.87[AFR][1000 genomes]
rs4652543	0.89[AFR][1000 genomes]
rs56184181	0.90[ASN][1000 genomes]
rs59805843	0.83[AFR][1000 genomes]
rs7537859	0.89[AFR][1000 genomes]
rs7538053	0.89[AFR][1000 genomes]
rs7549545	0.95[CHB][hapmap];0.94[GIH][hapmap]
rs7551728	0.89[AFR][1000 genomes]
rs944231	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs944232	0.86[EUR][1000 genomes];0.93[ASN][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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv2754938	chr1:180919343-180934343	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180905400-180940600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:180918600-180939800	Weak transcription	K562	blood
3	chr1:180918600-180944800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:180919800-180935800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:180922600-180949400	Strong transcription	Dnd41	blood
6	chr1:180923000-180935800	Weak transcription	Fetal Heart	heart
7	chr1:180923600-180944800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:180923600-180958800	Weak transcription	Small Intestine	intestine
9	chr1:180923800-180933400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:180923800-180938600	Weak transcription	Aorta	Aorta
11	chr1:180923800-180942800	Weak transcription	Fetal Lung	lung
12	chr1:180923800-180944800	Weak transcription	HUVEC	blood vessel
13	chr1:180923800-180944800	Weak transcription	NH-A	brain
14	chr1:180924000-180933800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:180924000-180934000	Weak transcription	Spleen	Spleen
16	chr1:180924000-180934400	Weak transcription	Left Ventricle	heart
17	chr1:180924000-180935000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:180924000-180935600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:180924000-180937800	Weak transcription	Right Ventricle	heart
20	chr1:180924000-180938400	Weak transcription	NHLF	lung
21	chr1:180924000-180938800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:180924000-180939000	Weak transcription	Colonic Mucosa	Colon
23	chr1:180924000-180939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:180924000-180939400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:180924000-180940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:180924000-180940200	Weak transcription	Gastric	stomach
27	chr1:180924000-180941600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:180924200-180933400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:180924200-180934400	Weak transcription	GM12878-XiMat	blood
30	chr1:180924200-180935000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:180924200-180936200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:180924200-180939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:180924200-180940000	Weak transcription	NHDF-Ad	bronchial
34	chr1:180924200-180941600	Weak transcription	Pancreas	Pancrea
35	chr1:180924200-180942000	Weak transcription	Liver	Liver
36	chr1:180924200-180943400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:180924400-180934200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:180926000-180938200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:180926600-180937000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:180927000-180935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:180927600-180934400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:180929000-180956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:180929400-180934000	Weak transcription	Primary B cells from cord blood	blood
44	chr1:180929400-180934200	Weak transcription	Fetal Intestine Large	intestine
45	chr1:180929600-180939200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:180930000-180934200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:180930200-180939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:180930200-180950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:180930400-180934600	Enhancers	Thymus	Thymus
50	chr1:180930600-180934000	Enhancers	Fetal Thymus	thymus

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