Variant report

Variant	rs7546034
Chromosome Location	chr1:224307725-224307726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224307549..224310401-chr1:224320612..224322134,2	K562	blood:
2	chr1:224301466..224304311-chr1:224306293..224309139,3	MCF-7	breast:
3	chr1:224306088..224308328-chr1:224310619..224312209,2	MCF-7	breast:
4	chr1:224305830..224307987-chr1:224312983..224315689,3	K562	blood:
5	chr1:224307124..224309430-chr1:224336604..224339479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143756	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10916388	1.00[MEX][hapmap]
rs11804140	1.00[MEX][hapmap]
rs12239040	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239466	1.00[MEX][hapmap]
rs1891738	1.00[MEX][hapmap]
rs2048994	1.00[MEX][hapmap]
rs2172359	1.00[MEX][hapmap]
rs57105953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57441274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59738860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60172546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60877434	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60998173	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61022093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124414	0.96[AFR][1000 genomes]
rs73124430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124458	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73126403	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73126432	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7535007	1.00[MEX][hapmap]
rs908793	1.00[MEX][hapmap]

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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224302800-224308000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:224302800-224309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224302800-224309200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224302800-224311600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:224302800-224311600	Weak transcription	Gastric	stomach
6	chr1:224302800-224318200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:224302800-224318200	Weak transcription	Left Ventricle	heart
8	chr1:224302800-224318200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:224302800-224318400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:224302800-224319600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:224302800-224319600	Weak transcription	Esophagus	oesophagus
12	chr1:224302800-224319600	Weak transcription	Lung	lung
13	chr1:224302800-224319600	Weak transcription	Small Intestine	intestine
14	chr1:224302800-224320200	Weak transcription	Pancreas	Pancrea
15	chr1:224302800-224327200	Weak transcription	Aorta	Aorta
16	chr1:224303000-224309800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:224303000-224315200	Weak transcription	Placenta	Placenta
18	chr1:224303000-224317800	Weak transcription	Ovary	ovary
19	chr1:224303000-224317800	Weak transcription	Thymus	Thymus
20	chr1:224303000-224318000	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:224303000-224318200	Weak transcription	Colonic Mucosa	Colon
22	chr1:224303000-224329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:224303200-224315400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:224303200-224317800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:224303200-224318000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:224303200-224318000	Weak transcription	HSMMtube	muscle
28	chr1:224303600-224318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:224304000-224315400	Weak transcription	NHLF	lung
30	chr1:224304000-224319600	Weak transcription	Fetal Stomach	stomach
31	chr1:224304200-224309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:224304200-224310000	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:224304200-224310400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:224304200-224315400	Weak transcription	NHDF-Ad	bronchial
35	chr1:224304200-224317800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:224304200-224318200	Weak transcription	Fetal Heart	heart
37	chr1:224304400-224309800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:224304400-224310000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:224304400-224310000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:224304400-224310400	Weak transcription	Brain Anterior Caudate	brain
41	chr1:224304400-224311200	Weak transcription	Right Atrium	heart
42	chr1:224304400-224311800	Weak transcription	Osteobl	bone
43	chr1:224304400-224312000	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:224304400-224315000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:224304400-224315400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:224304400-224318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:224304400-224318200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:224304400-224318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:224304400-224318200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:224304400-224318200	Weak transcription	Stomach Smooth Muscle	stomach

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