Variant report

Variant	rs4564196
Chromosome Location	chr1:85726516-85726517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:85726335-85726535	K562	blood:	n/a	n/a
2	POLR2A	chr1:85726385-85727786	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:85724115-85729465	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:85725091-85726766	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85726071..85727906-chr1:85736264..85738614,2	K562	blood:
2	chr1:85722628..85726570-chr1:85740869..85744448,4	MCF-7	breast:
3	chr1:85724038..85728124-chr1:85728267..85730109,3	K562	blood:
4	chr1:85723982..85727421-chr1:85728589..85731374,3	MCF-7	breast:
5	chr1:85725564..85729269-chr1:85738227..85742428,6	MCF-7	breast:
6	chr1:85723214..85729954-chr1:85738689..85743771,11	K562	blood:
7	chr1:85664620..85668785-chr1:85722586..85726821,6	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf52	TF binding region
ENSG00000223254	TF binding region
ENSG00000142867	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000097096	Chromatin interaction
ENSG00000223254	Chromatin interaction

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

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

rs_ID	r²[population]
rs1045609	1.00[EUR][1000 genomes]
rs11802530	1.00[EUR][1000 genomes]
rs11808537	1.00[EUR][1000 genomes]
rs11809833	1.00[EUR][1000 genomes]
rs233122	1.00[EUR][1000 genomes]
rs34609757	1.00[EUR][1000 genomes]
rs74098846	1.00[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85725400-85726600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:85725400-85726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:85725400-85728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:85725400-85732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85725400-85732200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:85725400-85733200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:85725400-85734600	Weak transcription	Small Intestine	intestine
8	chr1:85725400-85741000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:85725600-85732200	Weak transcription	Thymus	Thymus
10	chr1:85725600-85734600	Weak transcription	Lung	lung
11	chr1:85725600-85737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:85725800-85726600	Enhancers	Fetal Stomach	stomach
13	chr1:85725800-85726800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:85725800-85728200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:85725800-85728400	Weak transcription	Fetal Intestine Large	intestine
16	chr1:85725800-85729200	Weak transcription	Fetal Thymus	thymus
17	chr1:85725800-85729400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:85725800-85729800	Weak transcription	Primary T cells from cord blood	blood
19	chr1:85725800-85729800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:85725800-85730000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:85725800-85730000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:85725800-85731600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:85725800-85731600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:85725800-85731800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:85725800-85731800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:85725800-85732200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:85725800-85732200	Weak transcription	Colonic Mucosa	Colon
28	chr1:85725800-85732800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:85725800-85733800	Weak transcription	Brain Germinal Matrix	brain
30	chr1:85725800-85734600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:85725800-85734600	Weak transcription	Esophagus	oesophagus
32	chr1:85725800-85734800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:85725800-85739400	Weak transcription	Aorta	Aorta
34	chr1:85726000-85726600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:85726000-85726600	Enhancers	Fetal Muscle Leg	muscle
36	chr1:85726000-85726600	Enhancers	Left Ventricle	heart
37	chr1:85726000-85726600	Enhancers	NHDF-Ad	bronchial
38	chr1:85726000-85726800	Weak transcription	Primary B cells from cord blood	blood
39	chr1:85726000-85726800	Weak transcription	HMEC	breast
40	chr1:85726000-85727400	Weak transcription	Pancreas	Pancrea
41	chr1:85726000-85727800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:85726000-85728000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:85726000-85728000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:85726000-85728200	Weak transcription	Stomach Mucosa	stomach
45	chr1:85726000-85728400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:85726000-85728600	Weak transcription	Liver	Liver
47	chr1:85726000-85728600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:85726000-85728600	Weak transcription	HSMM	muscle
49	chr1:85726000-85728800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:85726000-85729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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