Variant report

Variant	rs10753231
Chromosome Location	chr1:180930334-180930335
allele	G/T
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	MAFK	chr1:180930302-180930370	HepG2	liver:	n/a	chr1:180930325-180930339

No.	Distal block	Cell Line	Cell type
1	chr1:180924358..180926561-chr1:180929794..180932663,2	K562	blood:
2	chr1:180929325..180932935-chr1:180990437..180993069,4	MCF-7	breast:
3	chr1:180924451..180927761-chr1:180928276..180933255,6	MCF-7	breast:
4	chr1:180920141..180924832-chr1:180927695..180934337,6	MCF-7	breast:
5	chr1:180929617..180932008-chr1:180990364..180992961,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251520	TF binding region
ENSG00000135823	Chromatin interaction
ENSG00000232586	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10737352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10753230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10914142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914143	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]
rs10914145	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12145907	1.00[ASW][hapmap];1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737062	1.00[ASW][hapmap];1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651079	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652543	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59805843	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7516077	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7525223	0.82[ASN][1000 genomes]
rs7537859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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:118 , 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	chr1:180924000-180930400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:180924000-180930800	Weak transcription	Fetal Kidney	kidney
16	chr1:180924000-180932800	Weak transcription	Lung	lung
17	chr1:180924000-180933800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:180924000-180934000	Weak transcription	Spleen	Spleen
19	chr1:180924000-180934400	Weak transcription	Left Ventricle	heart
20	chr1:180924000-180935000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:180924000-180935600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:180924000-180937800	Weak transcription	Right Ventricle	heart
23	chr1:180924000-180938400	Weak transcription	NHLF	lung
24	chr1:180924000-180938800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:180924000-180939000	Weak transcription	Colonic Mucosa	Colon
26	chr1:180924000-180939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:180924000-180939400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:180924000-180940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:180924000-180940200	Weak transcription	Gastric	stomach
30	chr1:180924000-180941600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:180924200-180930800	Weak transcription	Ovary	ovary
32	chr1:180924200-180931200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:180924200-180931200	Weak transcription	Placenta	Placenta
34	chr1:180924200-180931400	Weak transcription	Osteobl	bone
35	chr1:180924200-180933400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:180924200-180934400	Weak transcription	GM12878-XiMat	blood
37	chr1:180924200-180935000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:180924200-180936200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:180924200-180939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:180924200-180940000	Weak transcription	NHDF-Ad	bronchial
41	chr1:180924200-180941600	Weak transcription	Pancreas	Pancrea
42	chr1:180924200-180942000	Weak transcription	Liver	Liver
43	chr1:180924200-180943400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:180924400-180931400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:180924400-180934200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:180924800-180931000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:180924800-180931200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:180925200-180930400	Weak transcription	Adipose Nuclei	Adipose
49	chr1:180925200-180931200	Strong transcription	Fetal Stomach	stomach
50	chr1:180925400-180931000	Weak transcription	Duodenum Mucosa	Duodenum

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