Variant report

Variant	rs6672635
Chromosome Location	chr1:95539357-95539358
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	STAT3	chr1:95537336-95539367	GM12878	blood:	n/a	chr1:95537563-95537570

No.	Distal block	Cell Line	Cell type
1	chr1:95537299..95540042-chr1:95699496..95701047,2	K562	blood:
2	chr1:95536810..95539827-chr1:95698878..95701315,3	K562	blood:
3	chr1:95538593..95540251-chr1:95544538..95546428,2	K562	blood:
4	chr1:95539210..95541346-chr1:95694929..95697807,2	K562	blood:

Variant related genes	Relation type
ALG14	TF binding region
ENSG00000122481	Chromatin interaction
ENSG00000226026	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10465759	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11801110	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12239887	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12755096	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17112857	0.92[ASN][1000 genomes]
rs2391390	0.89[ASN][1000 genomes]
rs34726676	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34850224	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34923964	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35578830	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3890785	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4300274	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4387224	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4540701	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4615892	0.98[ASN][1000 genomes]
rs55902261	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55911502	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60846886	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6662345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674467	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6678809	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6679106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684137	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6687351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689195	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6704022	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs71654403	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs71654404	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs71654405	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71654406	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71654407	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71654408	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7417186	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95537400-95539400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:95537600-95539400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:95537600-95539400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:95537600-95539400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:95537800-95539400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:95537800-95539400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:95537800-95539400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:95537800-95539400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:95537800-95539400	Active TSS	Brain Angular Gyrus	brain
10	chr1:95537800-95539400	Active TSS	Fetal Kidney	kidney
11	chr1:95537800-95539400	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:95538600-95539400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:95538800-95539400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:95538800-95539400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:95538800-95539400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:95538800-95539400	Flanking Active TSS	Liver	Liver
17	chr1:95538800-95539400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr1:95538800-95539400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr1:95538800-95539400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr1:95538800-95539400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:95538800-95539600	Flanking Active TSS	Dnd41	blood
22	chr1:95539000-95539400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:95539000-95539400	Active TSS	Fetal Brain Male	brain
24	chr1:95539000-95539400	Flanking Active TSS	Thymus	Thymus
25	chr1:95539000-95539400	Active TSS	HepG2	liver
26	chr1:95539000-95539400	Flanking Active TSS	K562	blood
27	chr1:95539000-95541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:95539200-95539400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:95539200-95539400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:95539200-95539400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:95539200-95539400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:95539200-95539400	Enhancers	Primary B cells from cord blood	blood
33	chr1:95539200-95539400	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:95539200-95539400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:95539200-95539400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:95539200-95539400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:95539200-95539400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:95539200-95539400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:95539200-95539400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:95539200-95539400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:95539200-95539400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr1:95539200-95539400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr1:95539200-95539400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:95539200-95539400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:95539200-95539400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:95539200-95539400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:95539200-95539400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:95539200-95539400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:95539200-95539400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:95539200-95539400	Enhancers	Brain Cingulate Gyrus	brain

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