Variant report

Variant	rs61826756
Chromosome Location	chr1:173443818-173443819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr1:173443686-173443861	K562	blood:	n/a	n/a
2	HEY1	chr1:173443605-173444519	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:173443276-173444602	HepG2	liver:	n/a	n/a
4	MYBL2	chr1:173443429-173443990	HepG2	liver:	n/a	n/a
5	MAX	chr1:173443596-173444301	K562	blood:	n/a	n/a
6	FOXA1	chr1:173443481-173443903	HepG2	liver:	n/a	n/a
7	FOXA1	chr1:173443430-173444703	HepG2	liver:	n/a	chr1:173444588-173444603 chr1:173444668-173444680
8	FOXA1	chr1:173443586-173443963	HepG2	liver:	n/a	n/a
9	TEAD4	chr1:173443367-173444053	HepG2	liver:	n/a	n/a
10	HEY1	chr1:173443278-173444644	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:173443675-173443878	HepG2	liver:	n/a	n/a
12	GATA2	chr1:173443806-173444609	SH-SY5Y	brain:	n/a	n/a
13	POLR2A	chr1:173443511-173444543	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:173443740-173443881	HepG2	liver:	n/a	n/a
15	SP1	chr1:173443461-173444589	HepG2	liver:	n/a	n/a
16	TBP	chr1:173443286-173443829	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:173443390-173444536	HepG2	liver:	n/a	n/a
18	FOXA2	chr1:173443535-173443858	HepG2	liver:	n/a	n/a
19	YY1	chr1:173443265-173443975	HepG2	liver:	n/a	n/a
20	FOXA1	chr1:173443535-173443905	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:173443621-173443927	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
2	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
3	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
4	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
5	chr1:173440877..173444689-chr1:173445816..173448383,5	MCF-7	breast:

No data

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000208317	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11580117	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61828878	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
2	chr1:173430600-173444400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:173430800-173445000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:173431000-173444400	Weak transcription	Left Ventricle	heart
5	chr1:173433200-173444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:173438200-173445000	Weak transcription	Primary B cells from cord blood	blood
7	chr1:173440000-173444400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:173440200-173444000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:173440400-173444400	Weak transcription	Fetal Stomach	stomach
10	chr1:173440400-173444800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:173440400-173444800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:173440400-173445200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:173440600-173445200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:173440600-173445200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:173440600-173445800	Weak transcription	Spleen	Spleen
16	chr1:173441000-173444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:173441000-173445000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:173441200-173445000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:173441200-173445000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:173441400-173444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:173441400-173444400	Weak transcription	Dnd41	blood
22	chr1:173441400-173445200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:173441600-173445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:173441800-173444800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:173441800-173444800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:173442400-173444000	Enhancers	NHDF-Ad	bronchial
27	chr1:173442400-173444200	Enhancers	Liver	Liver
28	chr1:173442400-173444200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:173442400-173444200	Enhancers	HSMM	muscle
30	chr1:173442400-173444600	Enhancers	HMEC	breast
31	chr1:173442400-173444800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:173442400-173445000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:173442400-173445200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:173442400-173445200	Enhancers	Fetal Intestine Large	intestine
35	chr1:173442400-173445200	Enhancers	Fetal Intestine Small	intestine
36	chr1:173442400-173445200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:173442600-173444200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:173442600-173444400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:173442600-173444400	Enhancers	Brain Hippocampus Middle	brain
40	chr1:173442600-173444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr1:173442600-173444600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:173442600-173444600	Enhancers	Fetal Heart	heart
43	chr1:173442600-173444600	Weak transcription	GM12878-XiMat	blood
44	chr1:173442600-173444800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:173442600-173445000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:173442800-173444000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:173442800-173444000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:173442800-173444000	Enhancers	Fetal Lung	lung
49	chr1:173442800-173444000	Enhancers	Pancreas	Pancrea
50	chr1:173442800-173444400	Genic enhancers	Primary T cells from cord blood	blood

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