Variant report

Variant	rs188619238
Chromosome Location	chr1:158981114-158981115
allele	A/C
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	ZNF384	chr1:158981066-158981260	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:158980779-158981142	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:158980780-158981225	GM12878	blood:	n/a	n/a
4	MXI1	chr1:158978956-158981134	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:158980884-158981133	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:158978710-158981534	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:158978464-158986840	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:158980862-158981117	GM12878	blood:	n/a	n/a
9	CEBPB	chr1:158979270-158981129	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:158978391-158981364	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:158978384-158985943	GM19193	blood:	n/a	n/a
12	POLR2A	chr1:158979221-158981212	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:158978152-158981228	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:158979224-158982774	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:158980849-158981164	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:158978350-158987224	GM18505	blood:	n/a	n/a
17	POLR2A	chr1:158978475-158987184	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:

Variant related genes	Relation type
IFI16	TF binding region
ENSG00000163568	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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
5	esv32912	chr1:158980839-158981567	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 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	chr1:158977800-158982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:158978200-158981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr1:158978600-158984200	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:158978800-158983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:158978800-158985800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr1:158979000-158981200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:158979200-158981200	Active TSS	Colonic Mucosa	Colon
11	chr1:158979200-158981200	Active TSS	Psoas Muscle	Psoas
12	chr1:158979200-158982600	Active TSS	Fetal Stomach	stomach
13	chr1:158979200-158982800	Active TSS	NHLF	lung
14	chr1:158979200-158983200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr1:158979200-158983400	Active TSS	Right Atrium	heart
16	chr1:158979200-158984000	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:158979400-158981200	Active TSS	Fetal Intestine Small	intestine
18	chr1:158979400-158981200	Active TSS	Left Ventricle	heart
19	chr1:158979400-158981400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:158979400-158981600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr1:158979400-158981600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:158979400-158982000	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr1:158979400-158982200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:158979400-158982200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:158979400-158982200	Active TSS	NHDF-Ad	bronchial
26	chr1:158979400-158982400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:158979400-158982400	Active TSS	Fetal Kidney	kidney
28	chr1:158979400-158982400	Active TSS	Fetal Lung	lung
29	chr1:158979400-158982400	Active TSS	HSMM	muscle
30	chr1:158979400-158982400	Active TSS	HSMMtube	muscle
31	chr1:158979400-158982800	Active TSS	Fetal Intestine Large	intestine
32	chr1:158979400-158983000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:158979400-158983000	Active TSS	Primary T cells fromperipheralblood	blood
34	chr1:158979400-158983000	Active TSS	Ovary	ovary
35	chr1:158979400-158983000	Active TSS	Thymus	Thymus
36	chr1:158979400-158983200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:158979400-158983200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr1:158979400-158983400	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:158979400-158983600	Active TSS	Fetal Muscle Leg	muscle
40	chr1:158979400-158983600	Active TSS	Placenta	Placenta
41	chr1:158979400-158983800	Active TSS	Liver	Liver
42	chr1:158979400-158984000	Active TSS	Brain Hippocampus Middle	brain
43	chr1:158979400-158984000	Active TSS	GM12878-XiMat	blood
44	chr1:158979400-158984400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:158979400-158984400	Active TSS	Brain Anterior Caudate	brain
46	chr1:158979400-158984400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:158979600-158981200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:158979600-158981200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:158979600-158981200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:158979600-158981200	Active TSS	Fetal Muscle Trunk	muscle

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