Variant report

Variant	rs59448416
Chromosome Location	chr1:158982851-158982852
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	E2F4	chr1:158981857-158982942	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:158982007-158982916	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:158982037-158984384	GM12892	blood:	n/a	n/a
4	NFIC	chr1:158982106-158982880	GM12878	blood:	n/a	n/a
5	ZNF384	chr1:158982445-158983119	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:158981971-158982862	U87	brain:	n/a	n/a
7	POLR2A	chr1:158981852-158987235	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:158978464-158986840	GM12892	blood:	n/a	n/a
9	CHD1	chr1:158981505-158983902	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:158981523-158987265	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:158978384-158985943	GM19193	blood:	n/a	n/a
12	POLR2A	chr1:158982019-158982905	U87	brain:	n/a	n/a
13	POLR2A	chr1:158982200-158983713	GM12892	blood:	n/a	n/a
14	E2F6	chr1:158982216-158983037	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr1:158982167-158983566	GM12878	blood:	n/a	n/a
16	TBP	chr1:158982198-158982915	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:158981580-158990399	GM12891	blood:	n/a	n/a
18	POLR2A	chr1:158981297-158987303	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:158978350-158987224	GM18505	blood:	n/a	n/a
20	POLR2A	chr1:158978475-158987184	GM19099	blood:	n/a	n/a
21	POLR2A	chr1:158982072-158983653	GM12878	blood:	n/a	n/a
22	MYC	chr1:158982190-158982855	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
IFI16	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3026924	1.00[AMR][1000 genomes]
rs57160839	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59635124	1.00[AMR][1000 genomes]
rs59654278	1.00[AMR][1000 genomes]
rs6664453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7519244	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539283	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556046	0.88[AFR][1000 genomes];1.00[AMR][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	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
3	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158976000-158983000	Weak transcription	Spleen	Spleen
2	chr1:158976000-159000800	Weak transcription	Gastric	stomach
3	chr1:158977200-158990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:158978600-158984200	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:158978800-158983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:158978800-158985800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:158979200-158983200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr1:158979200-158983400	Active TSS	Right Atrium	heart
9	chr1:158979200-158984000	Active TSS	Stomach Smooth Muscle	stomach
10	chr1:158979400-158983000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:158979400-158983000	Active TSS	Primary T cells fromperipheralblood	blood
12	chr1:158979400-158983000	Active TSS	Ovary	ovary
13	chr1:158979400-158983000	Active TSS	Thymus	Thymus
14	chr1:158979400-158983200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:158979400-158983200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr1:158979400-158983400	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr1:158979400-158983600	Active TSS	Fetal Muscle Leg	muscle
18	chr1:158979400-158983600	Active TSS	Placenta	Placenta
19	chr1:158979400-158983800	Active TSS	Liver	Liver
20	chr1:158979400-158984000	Active TSS	Brain Hippocampus Middle	brain
21	chr1:158979400-158984000	Active TSS	GM12878-XiMat	blood
22	chr1:158979400-158984400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:158979400-158984400	Active TSS	Brain Anterior Caudate	brain
24	chr1:158979400-158984400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:158979600-158983000	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr1:158979600-158983000	Active TSS	Fetal Thymus	thymus
27	chr1:158979600-158983200	Active TSS	Primary B cells from peripheral blood	blood
28	chr1:158979600-158983400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:158979600-158983400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:158979600-158983400	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr1:158979800-158984600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:158980000-158983400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:158980400-158983000	Active TSS	Primary T cells from cord blood	blood
35	chr1:158981200-158983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:158981200-158985400	Weak transcription	Fetal Intestine Small	intestine
37	chr1:158981200-158985400	Weak transcription	Pancreas	Pancrea
38	chr1:158981200-158986400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:158981600-158983000	Flanking Active TSS	HUVEC	blood vessel
40	chr1:158981600-158983000	Flanking Active TSS	Osteobl	bone
41	chr1:158981600-158983800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:158981600-158983800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:158981600-158984200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:158981600-158986000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr1:158981800-158983000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr1:158982000-158983000	Flanking Active TSS	Hela-S3	cervix
47	chr1:158982000-158983000	Flanking Active TSS	NHEK	skin
48	chr1:158982000-158983800	Active TSS	Duodenum Mucosa	Duodenum
49	chr1:158982000-158984000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr1:158982000-158988000	Weak transcription	Fetal Brain Male	brain

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