Variant report

Variant	rs7540526
Chromosome Location	chr1:120336890-120336891
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120324473..120326821-chr1:120335135..120337895,2	K562	blood:
2	chr1:120327792..120331105-chr1:120334813..120337801,3	MCF-7	breast:
3	chr1:120336862..120340464-chr1:120344663..120347846,4	MCF-7	breast:
4	chr1:120329924..120336261-chr1:120336777..120341772,6	K562	blood:
5	chr1:120290151..120293053-chr1:120335824..120338207,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17024243	1.00[EUR][1000 genomes]
rs17024274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453043	1.00[EUR][1000 genomes]
rs2453045	1.00[EUR][1000 genomes]
rs2453054	1.00[EUR][1000 genomes]
rs2453057	1.00[EUR][1000 genomes]
rs2453060	1.00[EUR][1000 genomes]
rs2493393	1.00[EUR][1000 genomes]
rs2493395	1.00[EUR][1000 genomes]
rs2493397	1.00[EUR][1000 genomes]
rs2493399	1.00[EUR][1000 genomes]
rs2493409	1.00[EUR][1000 genomes]
rs2641341	1.00[EUR][1000 genomes]
rs2793828	1.00[EUR][1000 genomes]
rs2793924	1.00[EUR][1000 genomes]
rs34996202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4274109	1.00[EUR][1000 genomes]
rs59055697	1.00[EUR][1000 genomes]
rs60594933	1.00[EUR][1000 genomes]
rs6673881	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689706	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690032	1.00[EUR][1000 genomes]
rs6697236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74115097	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74115360	1.00[EUR][1000 genomes]
rs74115365	1.00[EUR][1000 genomes]
rs7536072	1.00[EUR][1000 genomes]
rs7537153	1.00[EUR][1000 genomes]
rs7537385	1.00[EUR][1000 genomes]
rs835566	1.00[EUR][1000 genomes]
rs835567	1.00[EUR][1000 genomes]
rs835577	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120327400-120337000	Weak transcription	Colonic Mucosa	Colon
2	chr1:120331000-120337800	Weak transcription	HMEC	breast
3	chr1:120332800-120341600	Enhancers	Fetal Stomach	stomach
4	chr1:120333800-120339200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:120334000-120338400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:120334000-120339400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:120334200-120338000	Weak transcription	Small Intestine	intestine
8	chr1:120334400-120337000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:120334600-120337000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:120334600-120337000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:120334600-120337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:120334800-120337000	Weak transcription	Liver	Liver
13	chr1:120334800-120337400	Weak transcription	Fetal Kidney	kidney
14	chr1:120335800-120338800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:120336000-120338600	Enhancers	Fetal Muscle Leg	muscle
16	chr1:120336000-120338800	Enhancers	Fetal Intestine Large	intestine
17	chr1:120336000-120338800	Enhancers	Stomach Mucosa	stomach
18	chr1:120336000-120340200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:120336000-120341600	Weak transcription	Primary T cells from cord blood	blood
20	chr1:120336000-120349400	Weak transcription	Right Atrium	heart
21	chr1:120336200-120338800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:120336200-120339600	Enhancers	Colon Smooth Muscle	Colon
23	chr1:120336400-120337000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:120336400-120337000	Flanking Active TSS	Fetal Lung	lung
25	chr1:120336400-120337200	Genic enhancers	Fetal Intestine Small	intestine
26	chr1:120336400-120338000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr1:120336400-120338400	Enhancers	Gastric	stomach
28	chr1:120336400-120342200	Weak transcription	Spleen	Spleen
29	chr1:120336600-120337800	Weak transcription	Placenta	Placenta
30	chr1:120336600-120338000	Weak transcription	Esophagus	oesophagus
31	chr1:120336600-120338000	Enhancers	HepG2	liver
32	chr1:120336600-120338200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:120336800-120337000	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:120336800-120337000	Enhancers	Rectal Smooth Muscle	rectum
35	chr1:120336800-120337800	Weak transcription	Pancreas	Pancrea
36	chr1:120336800-120338200	Enhancers	Osteobl	bone

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