Variant report

Variant	rs74128604
Chromosome Location	chr1:150931538-150931539
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	SIRT6	chr1:150931524-150931975	K562	blood:	n/a	n/a
2	POLR2A	chr1:150931512-150932339	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr1:150931523-150932157	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:150931488-150932092	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150927491..150931705-chr1:150932102..150935142,7	K562	blood:
2	chr1:150931485..150932396-chr1:150951897..150952523,2	MCF-7	breast:

Variant related genes	Relation type
SETDB1	TF binding region
ENSG00000143379	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10157132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090632	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832391	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832604	0.89[AFR][1000 genomes]
rs55884154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56341880	0.89[AMR][1000 genomes]
rs57376891	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57378704	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57734108	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57746902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58338969	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59687612	0.87[AMR][1000 genomes]
rs59703669	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60676022	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6672625	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703303	1.00[AMR][1000 genomes]
rs74127060	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127063	1.00[AMR][1000 genomes]
rs74127089	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547614	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 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	chr1:150899600-150943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:150900200-150941800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:150900400-150941000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:150900400-150942600	Weak transcription	Stomach Mucosa	stomach
5	chr1:150900400-150944200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:150901000-150941600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:150901600-150941600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:150903600-150941600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:150903600-150942200	Strong transcription	Dnd41	blood
10	chr1:150903600-150942800	Strong transcription	Fetal Stomach	stomach
11	chr1:150903600-150943000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:150903600-150943200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:150903800-150942600	Strong transcription	Fetal Thymus	thymus
14	chr1:150904400-150940800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:150904600-150942200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr1:150904600-150942400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:150904600-150942400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:150904600-150943400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:150904800-150936400	Strong transcription	Placenta	Placenta
20	chr1:150904800-150940800	Strong transcription	Fetal Intestine Large	intestine
21	chr1:150904800-150941800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:150904800-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:150905000-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:150905000-150942000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:150905000-150942400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:150905000-150943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:150905400-150942800	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:150905600-150942000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:150906200-150942400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:150906400-150941600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:150907000-150941600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:150907000-150941800	Strong transcription	Fetal Brain Female	brain
33	chr1:150907000-150942200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:150907000-150942400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:150907200-150941600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:150908400-150941800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:150908600-150941600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:150908600-150941800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:150908800-150940800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:150909200-150940600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:150909400-150941800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:150909600-150941800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:150911400-150941600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:150912000-150941600	Strong transcription	Ovary	ovary
45	chr1:150912200-150934200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:150912200-150941600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:150915600-150933200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:150917400-150941000	Strong transcription	Fetal Intestine Small	intestine
49	chr1:150918200-150934200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:150920200-150931600	Weak transcription	Fetal Heart	heart

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