Variant report

Variant	rs74150521
Chromosome Location	chr1:226008736-226008737
allele	A/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	FOXA2	chr1:226008452-226008877	A549	lung:	n/a	n/a
2	FOXA1	chr1:226008408-226008973	HepG2	liver:	n/a	chr1:226008722-226008737
3	FOXA1	chr1:226008495-226008920	HepG2	liver:	n/a	chr1:226008722-226008737
4	REST	chr1:226008479-226008884	MCF-7	breast:	n/a	n/a
5	FOXA1	chr1:226008469-226008870	HepG2	liver:	n/a	chr1:226008722-226008737
6	EP300	chr1:226008404-226008849	T-47D	breast:	n/a	n/a
7	GATA3	chr1:226008444-226008887	T-47D	breast:	n/a	n/a
8	E2F4	chr1:226008526-226008890	MCF10A-Er-Src	breast:	n/a	n/a
9	REST	chr1:226008500-226008946	A549	lung:	n/a	n/a
10	FOXA1	chr1:226008420-226008905	HepG2	liver:	n/a	chr1:226008722-226008737
11	HA-E2F1	chr1:226008446-226008849	MCF-7	breast:	n/a	n/a
12	FOXA1	chr1:226008399-226009004	T-47D	breast:	n/a	chr1:226008722-226008737
13	GATA3	chr1:226008437-226008858	T-47D	breast:	n/a	n/a
14	MYC	chr1:226008178-226008795	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXA2	chr1:226008261-226009086	HepG2	liver:	n/a	n/a
16	MYBL2	chr1:226008529-226008858	HepG2	liver:	n/a	n/a
17	STAT3	chr1:226008562-226008784	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXA1	chr1:226008404-226008850	T-47D	breast:	n/a	chr1:226008722-226008737
19	FOXA2	chr1:226008444-226009052	A549	lung:	n/a	n/a
20	FOXA2	chr1:226008493-226008828	HepG2	liver:	n/a	n/a
21	TCF12	chr1:226008336-226009007	A549	lung:	n/a	n/a
22	MYC	chr1:226008252-226008847	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225998808..226002827-chr1:226008223..226011228,3	MCF-7	breast:
2	chr1:226004660..226006754-chr1:226008430..226011315,2	K562	blood:
3	chr1:225839316..225841552-chr1:226008326..226009891,2	MCF-7	breast:
4	chr1:226007556..226009696-chr1:226010753..226013148,2	K562	blood:
5	chr1:226004025..226006566-chr1:226007208..226010297,4	MCF-7	breast:
6	chr1:225991700..225994994-chr1:226006068..226008999,3	K562	blood:
7	chr1:226008498..226011675-chr1:226013682..226016891,3	MCF-7	breast:

Variant related genes	Relation type
EPHX1	TF binding region
ENSG00000154380	Chromatin interaction
ENSG00000143819	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10915857	1.00[EUR][1000 genomes]
rs1505566	1.00[EUR][1000 genomes]
rs1578523	1.00[EUR][1000 genomes]
rs2615059	1.00[EUR][1000 genomes]
rs36231781	0.96[AFR][1000 genomes]
rs57267938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6426082	1.00[EUR][1000 genomes]
rs6662793	0.82[AFR][1000 genomes]
rs6663275	1.00[EUR][1000 genomes]
rs6676277	1.00[EUR][1000 genomes]
rs7514958	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226000000-226019400	Weak transcription	Fetal Brain Female	brain
2	chr1:226000400-226015800	Enhancers	Ovary	ovary
3	chr1:226001800-226010200	Enhancers	HepG2	liver
4	chr1:226001800-226019200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:226003800-226008800	Enhancers	Fetal Stomach	stomach
6	chr1:226004600-226009400	Enhancers	Fetal Lung	lung
7	chr1:226005600-226012000	Weak transcription	Fetal Intestine Large	intestine
8	chr1:226005600-226019400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:226005800-226009400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:226005800-226010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:226005800-226011600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:226005800-226012000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:226005800-226012400	Weak transcription	Placenta	Placenta
14	chr1:226005800-226013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:226005800-226013400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:226005800-226019200	Weak transcription	NHLF	lung
17	chr1:226005800-226019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:226005800-226019400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:226006000-226011200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:226006200-226009400	Enhancers	Stomach Mucosa	stomach
21	chr1:226006200-226010400	Genic enhancers	A549	lung
22	chr1:226006200-226011200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:226006200-226013200	Weak transcription	HSMMtube	muscle
24	chr1:226006200-226013600	Weak transcription	Small Intestine	intestine
25	chr1:226006200-226016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:226006200-226019400	Weak transcription	HSMM	muscle
27	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial
28	chr1:226006400-226010400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:226006400-226010400	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:226006400-226010400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:226006400-226010400	Weak transcription	Esophagus	oesophagus
32	chr1:226006400-226010400	Weak transcription	Gastric	stomach
33	chr1:226006400-226010400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:226006400-226010600	Weak transcription	Lung	lung
35	chr1:226006400-226011000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:226006400-226011200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:226006400-226011200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:226006400-226011200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:226006400-226011400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:226006400-226011400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:226006400-226011600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:226006400-226011600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:226006400-226011800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:226006400-226012000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:226006400-226012600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:226006400-226013000	Weak transcription	Osteobl	bone
47	chr1:226006400-226014200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:226006400-226014800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr1:226006400-226016800	Weak transcription	Colonic Mucosa	Colon
50	chr1:226006400-226018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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