Variant report

Variant	rs9427837
Chromosome Location	chr1:193023931-193023932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:193023864-193024302	T-47D	breast:	n/a	n/a
2	ESR1	chr1:193023925-193024311	T-47D	breast:	n/a	n/a
3	ESR1	chr1:193023839-193024250	T-47D	breast:	n/a	n/a
4	GATA3	chr1:193023768-193024376	T-47D	breast:	n/a	n/a
5	POLR2A	chr1:193023699-193024703	K562	blood:	n/a	n/a
6	POLR2A	chr1:193023123-193024727	Hela-S3	cervix:	n/a	n/a
7	ESR1	chr1:193023885-193024234	T-47D	breast:	n/a	n/a
8	FOXA1	chr1:193023876-193024276	T-47D	breast:	n/a	n/a
9	FOXA1	chr1:193023890-193024281	T-47D	breast:	n/a	n/a
10	POLR2A	chr1:193020780-193029490	K562	blood:	n/a	n/a
11	POLR2A	chr1:193023850-193024010	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:193023880-193023935	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193020432..193024562-chr1:193089724..193092274,3	MCF-7	breast:
2	chr1:192993820..193002591-chr1:193021038..193030016,12	K562	blood:
3	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
4	chr1:193021502..193024207-chr1:193053848..193055702,2	K562	blood:
5	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
6	chr1:193020543..193025995-chr1:193071857..193075742,5	K562	blood:

No data

Variant related genes	Relation type
TROVE2	TF binding region
ENSG00000023572	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16835200	1.00[AMR][1000 genomes]
rs2244478	1.00[AMR][1000 genomes]
rs472512	1.00[AMR][1000 genomes]
rs9427571	1.00[AMR][1000 genomes]
rs9427573	1.00[AMR][1000 genomes]
rs9427835	1.00[AMR][1000 genomes]
rs9427836	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
4	chr1:192984200-193026600	Weak transcription	NHLF	lung
5	chr1:192984400-193026400	Weak transcription	HUVEC	blood vessel
6	chr1:192984800-193025800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:192987400-193026200	Weak transcription	Fetal Kidney	kidney
8	chr1:192998800-193026200	Weak transcription	NHDF-Ad	bronchial
9	chr1:193011000-193027800	Weak transcription	Small Intestine	intestine
10	chr1:193011400-193026400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:193011400-193027000	Weak transcription	Brain Anterior Caudate	brain
12	chr1:193011600-193027000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:193012000-193026400	Weak transcription	Fetal Heart	heart
14	chr1:193012000-193027600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:193012200-193026800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:193012400-193027400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:193012600-193026600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:193012600-193027600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:193013200-193026800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:193013200-193027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:193013600-193026400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:193013800-193026600	Weak transcription	Fetal Brain Female	brain
23	chr1:193014800-193027200	Weak transcription	Brain Germinal Matrix	brain
24	chr1:193015400-193027600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:193016000-193027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:193018000-193026600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:193018000-193026600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:193018600-193027000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:193018600-193027000	Weak transcription	Primary B cells from cord blood	blood
30	chr1:193018600-193027000	Weak transcription	Lung	lung
31	chr1:193018600-193027000	Weak transcription	Spleen	Spleen
32	chr1:193018600-193027200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:193019000-193026200	Weak transcription	HSMMtube	muscle
34	chr1:193019000-193026400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:193019000-193026400	Weak transcription	Fetal Lung	lung
36	chr1:193019000-193026400	Weak transcription	NH-A	brain
37	chr1:193019000-193027200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:193019000-193027200	Weak transcription	Colonic Mucosa	Colon
39	chr1:193019000-193027400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:193019000-193027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:193019400-193026600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:193019800-193026000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:193019800-193026600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:193019800-193027400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:193020000-193026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:193020000-193027000	Weak transcription	Fetal Intestine Small	intestine
47	chr1:193020000-193027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:193020000-193027600	Weak transcription	Esophagus	oesophagus
49	chr1:193020200-193026000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:193020200-193026200	Weak transcription	Muscle Satellite Cultured Cells	--

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