Variant report

Variant	rs375178849
Chromosome Location	chr1:155183994-155183995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155183800-155184403	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:155183849-155185067	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:155183859-155185301	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:155183965-155184462	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:155183944-155185346	GM12892	blood:	n/a	n/a
6	HEY1	chr1:155183660-155184163	K562	blood:	n/a	n/a
7	POLR2A	chr1:155183802-155185604	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:155180024-155185529	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:155183694-155185141	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr1:155183370-155185641	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:155183306-155185730	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr1:155183732-155185598	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:155183923-155184447	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:155183989-155185187	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:155183971-155184201	ProgFib	skin:	n/a	n/a
16	POLR2A	chr1:155183849-155185439	K562	blood:	n/a	n/a
17	POLR2A	chr1:155183879-155185483	GM12891	blood:	n/a	n/a
18	POLR2A	chr1:155183979-155184448	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:155183946-155184487	GM12891	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155178845..155181651-chr1:155183857..155185772,2	MCF-7	breast:
2	chr1:155183199..155186042-chr1:155209567..155212010,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236263	TF binding region
ENSG00000177628	Chromatin interaction
ENSG00000173171	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
6	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
7	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
11	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	407 gene(s)	inside rSNPs	diseases
12	nsv527682	chr1:155149718-155197462	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	361 gene(s)	inside rSNPs	diseases
13	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
14	esv2764209	chr1:155175657-155201064	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv547963	chr1:155178746-155206167	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
16	nsv8458	chr1:155180131-155184409	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
17	nsv946411	chr1:155180147-155188968	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	nsv870053	chr1:155180349-155212316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
19	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
20	esv3373583	chr1:155183155-155203622	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
21	esv3409536	chr1:155183691-155204364	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
22	nsv8469	chr1:155183945-155204572	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 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	chr1:155179600-155184400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:155179600-155184400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:155179600-155184400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:155179600-155184600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:155179600-155184600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:155179600-155184600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:155179600-155188200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:155179600-155189000	Weak transcription	Stomach Mucosa	stomach
9	chr1:155179600-155189200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:155179600-155189200	Weak transcription	Colonic Mucosa	Colon
11	chr1:155179600-155189200	Weak transcription	Psoas Muscle	Psoas
12	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
13	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
15	chr1:155179600-155196600	Weak transcription	Gastric	stomach
16	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
17	chr1:155179800-155184200	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:155179800-155184800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:155179800-155185400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:155179800-155188600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:155179800-155188600	Weak transcription	Brain Angular Gyrus	brain
22	chr1:155179800-155188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:155179800-155188800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:155179800-155188800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:155179800-155189000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
27	chr1:155180000-155184200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:155180000-155185200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:155180000-155185200	Weak transcription	Fetal Brain Female	brain
30	chr1:155180000-155185400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:155180000-155185400	Weak transcription	Fetal Thymus	thymus
32	chr1:155180000-155188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:155180000-155188600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:155180000-155188600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:155180000-155188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:155180000-155188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:155180000-155188800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:155180000-155189200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:155180000-155194000	Weak transcription	HUVEC	blood vessel
40	chr1:155180000-155195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:155180200-155184200	Weak transcription	Brain Germinal Matrix	brain
42	chr1:155180200-155184800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:155180200-155185200	Weak transcription	A549	lung
44	chr1:155180200-155188200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:155180200-155188600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:155180200-155188600	Weak transcription	Fetal Kidney	kidney
47	chr1:155180200-155188600	Weak transcription	NHDF-Ad	bronchial
48	chr1:155180200-155188800	Weak transcription	NH-A	brain
49	chr1:155180200-155194000	Weak transcription	HSMM	muscle
50	chr1:155180400-155184200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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