Variant report

Variant	rs73034309
Chromosome Location	chr1:171221367-171221368
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	CTCF	chr1:171220446-171221389	A549	lung:	n/a	chr1:171221034-171221047 chr1:171221032-171221050
2	CTCF	chr1:171221220-171221370	GM12867	blood:	n/a	n/a
3	CTCF	chr1:171221300-171221450	AoAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171219827..171222241-chr1:171222983..171225833,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231424	TF binding region
ENSG00000206692	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10399740	1.00[AMR][1000 genomes]
rs10912500	1.00[AMR][1000 genomes]
rs10912599	1.00[AMR][1000 genomes]
rs10912623	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061893	1.00[AMR][1000 genomes]
rs12066832	1.00[AMR][1000 genomes]
rs12071161	1.00[AMR][1000 genomes]
rs12075699	1.00[AMR][1000 genomes]
rs12085769	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56910253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656513	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6689816	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028643	1.00[AMR][1000 genomes]
rs73032550	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032556	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032574	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7552423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7883579	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171220200-171221400	Active TSS	Right Ventricle	heart
2	chr1:171220200-171221800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr1:171221000-171221400	Bivalent Enhancer	Colon Smooth Muscle	Colon
4	chr1:171221000-171221400	Enhancers	Fetal Heart	heart
5	chr1:171221000-171221400	Enhancers	Stomach Mucosa	stomach
6	chr1:171221000-171221600	Weak transcription	Gastric	stomach
7	chr1:171221000-171221600	Enhancers	HSMM	muscle
8	chr1:171221000-171221600	Weak transcription	HSMMtube	muscle
9	chr1:171221000-171221800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:171221000-171221800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:171221000-171222000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:171221000-171222000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr1:171221000-171222000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:171221000-171222000	Bivalent Enhancer	Fetal Thymus	thymus
15	chr1:171221000-171222200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:171221000-171222200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr1:171221000-171222600	Enhancers	Dnd41	blood
18	chr1:171221000-171223800	Weak transcription	HMEC	breast
19	chr1:171221000-171224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:171221000-171226000	Weak transcription	Fetal Kidney	kidney
21	chr1:171221000-171226600	Weak transcription	Esophagus	oesophagus
22	chr1:171221000-171227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:171221200-171221400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:171221200-171221400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:171221200-171221400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:171221200-171221400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:171221200-171221400	Active TSS	NH-A	brain
28	chr1:171221200-171221600	Enhancers	GM12878-XiMat	blood
29	chr1:171221200-171221800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:171221200-171221800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:171221200-171221800	Enhancers	Primary B cells from cord blood	blood
32	chr1:171221200-171221800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:171221200-171221800	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:171221200-171221800	Enhancers	Pancreas	Pancrea
35	chr1:171221200-171221800	Enhancers	NHEK	skin
36	chr1:171221200-171222000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:171221200-171222000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:171221200-171222000	Enhancers	Fetal Muscle Trunk	muscle
39	chr1:171221200-171222000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr1:171221200-171222200	Enhancers	Primary B cells from peripheral blood	blood
41	chr1:171221200-171223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:171221200-171223600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:171221200-171223600	Weak transcription	Osteobl	bone
44	chr1:171221200-171223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:171221200-171224400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:171221200-171224400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:171221200-171224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:171221200-171226000	Weak transcription	Liver	Liver
49	chr1:171221200-171226000	Weak transcription	Fetal Lung	lung
50	chr1:171221200-171226400	Weak transcription	Right Atrium	heart

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