Variant report

Variant	rs73026305
Chromosome Location	chr1:153511239-153511240
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	POLR2A	chr1:153510796-153511267	HCT-116	colon:	n/a	n/a
2	MXI1	chr1:153510775-153511274	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr1:153510763-153511411	K562	blood:	n/a	n/a
4	NR2F2	chr1:153510710-153511254	MCF-7	breast:	n/a	n/a
5	CEBPB	chr1:153510756-153511367	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr1:153511100-153511250	AG09319	gingival:	n/a	n/a
7	ZKSCAN1	chr1:153510779-153511274	Hela-S3	cervix:	n/a	n/a
8	USF1	chr1:153510526-153511344	HCT-116	colon:	n/a	chr1:153510912-153510921 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510911-153510920 chr1:153510911-153510922 chr1:153510906-153510927
9	RAD21	chr1:153510779-153511333	Hela-S3	cervix:	n/a	chr1:153511095-153511105
10	MYC	chr1:153510877-153511364	MCF10A-Er-Src	breast:	n/a	chr1:153510913-153510922 chr1:153510911-153510922 chr1:153511007-153511017 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510912-153510921 chr1:153510911-153510922
11	CTCF	chr1:153511160-153511310	HMF	breast:	n/a	n/a
12	NFIC	chr1:153510715-153511338	ECC-1	luminal epithelium:	n/a	n/a
13	STAT3	chr1:153511074-153511274	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr1:153510714-153511303	Hela-S3	cervix:	n/a	chr1:153510913-153510922 chr1:153510911-153510922 chr1:153511007-153511017 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510912-153510921 chr1:153510911-153510922
15	TFAP2C	chr1:153510802-153511393	Hela-S3	cervix:	n/a	n/a
16	MAX	chr1:153510690-153511311	Hela-S3	cervix:	n/a	chr1:153510913-153510922 chr1:153510911-153510922 chr1:153511007-153511017 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510912-153510921 chr1:153510911-153510922
17	GTF2F1	chr1:153510679-153511360	Hela-S3	cervix:	n/a	n/a
18	MAX	chr1:153510725-153511365	Hela-S3	cervix:	n/a	chr1:153510913-153510922 chr1:153510911-153510922 chr1:153511007-153511017 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510912-153510921 chr1:153510911-153510922
19	FOS	chr1:153511050-153511394	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr1:153511057-153511364	MCF10A-Er-Src	breast:	n/a	n/a
21	TCF7L2	chr1:153510664-153511383	Hela-S3	cervix:	n/a	n/a
22	FOS	chr1:153511081-153511381	MCF10A-Er-Src	breast:	n/a	n/a
23	ELK1	chr1:153510704-153511305	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:153510675-153511298	HCT-116	colon:	n/a	n/a
25	FOS	chr1:153510817-153511394	MCF10A-Er-Src	breast:	n/a	chr1:153510854-153510868
26	STAT3	chr1:153511063-153511293	MCF10A-Er-Src	breast:	n/a	n/a
27	USF1	chr1:153510518-153511332	HCT-116	colon:	n/a	chr1:153510912-153510921 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510911-153510920 chr1:153510911-153510922 chr1:153510906-153510927
28	BRCA1	chr1:153510796-153511320	Hela-S3	cervix:	n/a	n/a
29	FOS	chr1:153510910-153511394	MCF10A-Er-Src	breast:	n/a	n/a
30	MAX	chr1:153510710-153511263	K562	blood:	n/a	chr1:153510913-153510922 chr1:153510911-153510922 chr1:153511007-153511017 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510912-153510921 chr1:153510911-153510922
31	CHD2	chr1:153510803-153511269	Hela-S3	cervix:	n/a	n/a
32	RFX5	chr1:153510794-153511389	Hela-S3	cervix:	n/a	n/a
33	SMC3	chr1:153510756-153511317	Hela-S3	cervix:	n/a	n/a
34	RCOR1	chr1:153510763-153511341	Hela-S3	cervix:	n/a	n/a
35	USF2	chr1:153510557-153511295	Hela-S3	cervix:	n/a	chr1:153510912-153510921 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510911-153510920 chr1:153510911-153510922 chr1:153510906-153510927
36	MAZ	chr1:153510753-153511270	Hela-S3	cervix:	n/a	chr1:153510913-153510922 chr1:153510911-153510922 chr1:153511007-153511017 chr1:153510912-153510921 chr1:153510910-153510923 chr1:153510912-153510921 chr1:153510911-153510922
37	STAT3	chr1:153510787-153511285	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153510801..153512442-chr1:153538741..153540863,2	MCF-7	breast:
2	chr1:153510989..153512909-chr1:153598387..153600995,3	K562	blood:
3	chr1:153510930..153512480-chr1:153598617..153601303,2	MCF-7	breast:
4	chr1:153509922..153512486-chr1:153642550..153644597,2	K562	blood:
5	chr1:153510615..153512174-chr1:153513958..153515590,2	K562	blood:
6	chr1:153504897..153511307-chr1:153536318..153542519,37	MCF-7	breast:
7	chr1:153511083..153513930-chr1:153515986..153517623,2	K562	blood:

Variant related genes	Relation type
S100A6	TF binding region
ENSG00000196420	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000189171	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56876140	1.00[AMR][1000 genomes]
rs59146818	1.00[AMR][1000 genomes]
rs73024434	0.86[AFR][1000 genomes]
rs73024438	0.86[AFR][1000 genomes]
rs73026311	1.00[AMR][1000 genomes]
rs73026324	0.80[AFR][1000 genomes];1.00[AMR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153508600-153511600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153508800-153512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:153509000-153511400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:153509200-153512600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:153509200-153512600	Weak transcription	Small Intestine	intestine
6	chr1:153509200-153512800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:153509200-153514000	Enhancers	HMEC	breast
8	chr1:153509200-153515400	Weak transcription	Aorta	Aorta
9	chr1:153509200-153515600	Weak transcription	Fetal Kidney	kidney
10	chr1:153509200-153516800	Enhancers	Fetal Thymus	thymus
11	chr1:153509200-153517400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:153509400-153511400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:153509400-153511600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:153509400-153512800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:153509400-153513000	Weak transcription	GM12878-XiMat	blood
16	chr1:153509400-153513000	Weak transcription	Osteobl	bone
17	chr1:153509400-153513200	Weak transcription	Gastric	stomach
18	chr1:153509400-153515000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:153509400-153515200	Enhancers	NHEK	skin
20	chr1:153509400-153516800	Weak transcription	Right Atrium	heart
21	chr1:153509400-153517000	Weak transcription	HUVEC	blood vessel
22	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:153509600-153511400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:153509600-153511400	Enhancers	A549	lung
25	chr1:153509600-153512000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:153509600-153512000	Weak transcription	Primary T cells from cord blood	blood
27	chr1:153509600-153512000	Weak transcription	HSMM	muscle
28	chr1:153509600-153512200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:153509600-153512200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:153509600-153512400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:153509600-153512600	Weak transcription	HSMMtube	muscle
32	chr1:153509600-153515400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:153509600-153515400	Weak transcription	Left Ventricle	heart
34	chr1:153509600-153515400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:153509600-153515600	Weak transcription	Fetal Stomach	stomach
36	chr1:153509600-153517000	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:153509800-153511400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:153509800-153512000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:153509800-153512200	Weak transcription	Primary B cells from cord blood	blood
40	chr1:153509800-153512200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:153509800-153512200	Weak transcription	Thymus	Thymus
42	chr1:153509800-153512200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr1:153509800-153512400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:153509800-153512400	Weak transcription	Spleen	Spleen
45	chr1:153509800-153512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:153509800-153512600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:153509800-153512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:153509800-153513000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:153509800-153514800	Weak transcription	Lung	lung
50	chr1:153509800-153515800	Weak transcription	Fetal Heart	heart

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