Variant report

Variant	rs58576036
Chromosome Location	chr1:173931451-173931452
allele	C/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	ZNF143	chr1:173931420-173931714	K562	blood:	n/a	n/a
2	SIX5	chr1:173931437-173931607	K562	blood:	n/a	n/a
3	HCFC1	chr1:173931428-173931673	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:173931023..173932801-chr1:173933873..173936006,2	MCF-7	breast:
2	chr1:173931135..173933401-chr1:173937060..173938685,2	K562	blood:
3	chr1:173835905..173838790-chr1:173929682..173932448,3	MCF-7	breast:

Variant related genes	Relation type
RC3H1	TF binding region
ENSG00000185278	Chromatin interaction
ENSG00000200755	Chromatin interaction
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1322769	1.00[AMR][1000 genomes]
rs16846397	1.00[AMR][1000 genomes]
rs16846483	1.00[AMR][1000 genomes]
rs2227620	1.00[AMR][1000 genomes]
rs57006357	1.00[AMR][1000 genomes]
rs57343517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57664780	1.00[AMR][1000 genomes]
rs58735809	1.00[AMR][1000 genomes]
rs58930477	1.00[AMR][1000 genomes]
rs59355797	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846661	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667627	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6704413	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027407	1.00[AMR][1000 genomes]
rs73027443	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027460	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027463	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027464	1.00[AMR][1000 genomes]
rs73027488	1.00[AMR][1000 genomes]
rs73035116	1.00[AMR][1000 genomes]
rs73035134	1.00[AMR][1000 genomes]
rs73035139	1.00[AMR][1000 genomes]
rs73037076	1.00[AMR][1000 genomes]
rs73037083	1.00[AMR][1000 genomes]
rs73037097	1.00[AMR][1000 genomes]
rs73041050	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7519571	1.00[AMR][1000 genomes]
rs7531236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547873	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9726181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active 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	294 gene(s)	inside rSNPs	diseases
2	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
3	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv872550	chr1:173913804-173964206	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv18042	chr1:173929654-173932522	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173899800-173953800	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr1:173900000-173958600	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr1:173900000-173962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:173900000-173966600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:173900000-173968200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:173900200-173966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:173900400-173964600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:173900800-173963800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:173901400-173962200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr1:173901600-173966400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:173901600-173966400	Strong transcription	Dnd41	blood
12	chr1:173902200-173954600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:173902600-173954400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:173904000-173966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:173904800-173954200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:173905000-173938400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:173905000-173962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:173905200-173954600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:173906000-173940400	Strong transcription	Adipose Nuclei	Adipose
20	chr1:173906000-173959000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:173906200-173937600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:173906400-173931800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:173906800-173959000	Strong transcription	Liver	Liver
24	chr1:173909800-173974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:173910200-173933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:173910400-173952200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
28	chr1:173922000-173932400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:173922200-173942000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:173922200-173954000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:173922400-173932000	Strong transcription	Fetal Stomach	stomach
32	chr1:173922600-173936400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:173923400-173954400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:173923400-173962400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:173923600-173939800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:173923800-173953800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:173923800-173954400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:173923800-173955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:173924000-173940200	Strong transcription	Osteobl	bone
40	chr1:173924800-173931800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:173925200-173937600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:173925800-173934200	Strong transcription	Colon Smooth Muscle	Colon
43	chr1:173926400-173935400	Strong transcription	Fetal Lung	lung
44	chr1:173926600-173931800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:173926600-173938400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:173927000-173933000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:173927600-173954200	Strong transcription	Placenta	Placenta
48	chr1:173928200-173936600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:173928200-173938400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:173928400-173936800	Strong transcription	Primary T cells from cord blood	blood

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