Variant report

Variant	rs74145574
Chromosome Location	chr1:222987832-222987833
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	CHD2	chr1:222987780-222988800	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:222987713-222988467	GM12878	blood:	n/a	n/a
3	FOSL2	chr1:222987730-222988465	A549	lung:	n/a	chr1:222988077-222988085 chr1:222988077-222988085 chr1:222988076-222988086 chr1:222988078-222988085 chr1:222988076-222988086 chr1:222988076-222988086 chr1:222988076-222988086
4	POLR2A	chr1:222987771-222988890	Raji	blood:	n/a	n/a
5	RCOR1	chr1:222987759-222988918	GM12878	blood:	n/a	n/a
6	RUNX3	chr1:222987784-222988636	GM12878	blood:	n/a	n/a
7	BATF	chr1:222987826-222988225	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:222987810-222988771	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:222987533-222989011	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:222987763-222988892	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:222987410-222989141	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:222987762-222988959	HepG2	liver:	n/a	n/a
13	GABPA	chr1:222987754-222988949	A549	lung:	n/a	n/a
14	HA-E2F1	chr1:222987775-222988904	MCF-7	breast:	n/a	chr1:222988187-222988194 chr1:222988254-222988264 chr1:222988186-222988195 chr1:222988240-222988250 chr1:222988253-222988262
15	POLR2A	chr1:222987781-222988784	PFSK-1	brain:	n/a	n/a
16	MXI1	chr1:222987238-222990528	SK-N-SH	brain:	n/a	n/a
17	GATA2	chr1:222987321-222988749	SH-SY5Y	brain:	n/a	chr1:222988075-222988084 chr1:222988211-222988219
18	RAD21	chr1:222987721-222988179	Hela-S3	cervix:	n/a	n/a
19	MAX	chr1:222987825-222989012	A549	lung:	n/a	n/a
20	CTCF	chr1:222987700-222987850	NHDF-neo	bronchial:	n/a	n/a
21	EBF1	chr1:222987751-222988349	GM12878	blood:	n/a	n/a
22	REST	chr1:222987786-222988909	H1-neurons	neurons:	n/a	chr1:222988743-222988763 chr1:222988276-222988286 chr1:222988749-222988763
23	KAP1	chr1:222987445-222989154	HEK293	kidney:	n/a	chr1:222988078-222988087
24	CTCF	chr1:222987700-222987850	AG10803	skin:	n/a	n/a
25	SMARCB1	chr1:222987621-222988898	Hela-S3	cervix:	n/a	chr1:222988077-222988086
26	KAP1	chr1:222987004-222989161	U2OS	brain:	n/a	chr1:222988078-222988087
27	CHD2	chr1:222987737-222989140	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:222987766-222988740	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr1:222987672-222988778	HEK293	kidney:	n/a	n/a
30	MAX	chr1:222987809-222988806	HepG2	liver:	n/a	n/a
31	SMC3	chr1:222987722-222989069	Hela-S3	cervix:	n/a	n/a
32	ZNF263	chr1:222987754-222989103	HEK293-T-REx	kidney:	n/a	n/a
33	SIN3AK20	chr1:222987700-222989068	MCF-7	breast:	n/a	n/a
34	HCFC1	chr1:222987747-222989406	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:222987734-222987857	ProgFib	skin:	n/a	n/a
36	POLR2A	chr1:222987799-222988812	SK-N-SH	brain:	n/a	n/a
37	TCF12	chr1:222987807-222988719	A549	lung:	n/a	n/a
38	GABPA	chr1:222987832-222988906	HL-60	blood:	n/a	n/a
39	POU2F2	chr1:222987778-222988155	GM12878	blood:	n/a	n/a
40	FOSL2	chr1:222987774-222988275	HepG2	liver:	n/a	chr1:222988077-222988085 chr1:222988077-222988085 chr1:222988076-222988086 chr1:222988078-222988085 chr1:222988076-222988086 chr1:222988076-222988086 chr1:222988076-222988086
41	POLR2A	chr1:222987612-222988707	MCF10A-Er-Src	breast:	n/a	n/a
42	FOSL2	chr1:222987763-222988705	SK-N-SH	brain:	n/a	chr1:222988077-222988085 chr1:222988077-222988085 chr1:222988076-222988086 chr1:222988078-222988085 chr1:222988076-222988086 chr1:222988076-222988086 chr1:222988076-222988086
43	SMARCC1	chr1:222987375-222989026	Hela-S3	cervix:	n/a	chr1:222988077-222988086
44	POLR2A	chr1:222987574-222988814	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr1:222987814-222988834	GM15510	blood:	n/a	n/a
46	POLR2A	chr1:222987788-222988709	PANC-1	pancreas:	n/a	n/a
47	MAFK	chr1:222987778-222988775	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222986729..222989819-chr1:223001002..223005734,5	MCF-7	breast:
2	chr1:222980666..222982501-chr1:222985818..222988302,2	K562	blood:

Variant related genes	Relation type
DISP1	TF binding region
ENSG00000228106	TF binding region
ENSG00000228106	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35787799	0.81[AFR][1000 genomes]
rs74145575	0.82[AFR][1000 genomes]
rs74145576	0.82[AFR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222986600-222988000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:222987200-222988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:222987200-222988000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:222987200-222988000	Enhancers	Small Intestine	intestine
5	chr1:222987200-222988200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:222987200-222988200	Flanking Active TSS	NH-A	brain
7	chr1:222987400-222988000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222987400-222988000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:222987400-222988000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr1:222987400-222988000	Enhancers	Pancreas	Pancrea
11	chr1:222987400-222988000	Enhancers	Spleen	Spleen
12	chr1:222987400-222988000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:222987400-222988200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:222987400-222988200	Flanking Active TSS	Osteobl	bone
15	chr1:222987400-222988600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:222987400-222988800	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:222987400-222989000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:222987400-222989400	Active TSS	Brain Angular Gyrus	brain
19	chr1:222987400-222989400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:222987600-222988000	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr1:222987600-222988000	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr1:222987600-222988000	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr1:222987600-222988000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:222987600-222988000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:222987600-222988000	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr1:222987600-222988000	Flanking Active TSS	Fetal Lung	lung
27	chr1:222987600-222988000	Enhancers	Fetal Thymus	thymus
28	chr1:222987600-222988000	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr1:222987600-222988000	Enhancers	GM12878-XiMat	blood
30	chr1:222987600-222988000	Flanking Active TSS	Hela-S3	cervix
31	chr1:222987600-222988000	Flanking Active TSS	NHDF-Ad	bronchial
32	chr1:222987600-222988200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr1:222987600-222988200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr1:222987600-222988400	Enhancers	Stomach Mucosa	stomach
35	chr1:222987600-222988600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:222987600-222989000	Active TSS	Brain Cingulate Gyrus	brain
37	chr1:222987600-222989000	Active TSS	Colonic Mucosa	Colon
38	chr1:222987600-222989200	Active TSS	Brain Substantia Nigra	brain
39	chr1:222987600-222989400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:222987600-222989400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:222987800-222988000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr1:222987800-222988000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr1:222987800-222988000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:222987800-222988000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:222987800-222988000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:222987800-222988000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:222987800-222988000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:222987800-222988000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:222987800-222988000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:222987800-222988000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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