Variant report

Variant	rs3775526
Chromosome Location	chr4:79699752-79699753
allele	C/T
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	CUX1	chr4:79699623-79700086	K562	blood:	n/a	chr4:79699929-79699938 chr4:79699932-79699943 chr4:79699625-79699636
2	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
3	STAT1	chr4:79699689-79699755	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:79699652-79699772	ProgFib	skin:	n/a	n/a
5	IRF1	chr4:79698043-79700891	K562	blood:	n/a	chr4:79699678-79699685 chr4:79698149-79698158 chr4:79699001-79699011 chr4:79698997-79699011 chr4:79699699-79699716
6	CUX1	chr4:79699568-79700072	GM12878	blood:	n/a	chr4:79699929-79699938 chr4:79699932-79699943 chr4:79699625-79699636
7	POLR2A	chr4:79699498-79704548	K562	blood:	n/a	n/a
8	UBTF	chr4:79699373-79700760	K562	blood:	n/a	n/a
9	TEAD4	chr4:79699532-79701679	K562	blood:	n/a	n/a
10	POLR2A	chr4:79699514-79703652	GM12891	blood:	n/a	n/a
11	TBL1XR1	chr4:79698151-79701864	K562	blood:	n/a	n/a
12	PML	chr4:79699511-79703925	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79699190..79702080-chr4:79704302..79706989,3	MCF-7	breast:
2	chr4:79593540..79596329-chr4:79699312..79702683,3	K562	blood:
3	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
4	chr4:79548752..79551333-chr4:79698595..79700948,2	K562	blood:
5	chr4:79563120..79566472-chr4:79698388..79700680,4	K562	blood:
6	chr4:79571366..79573433-chr4:79699664..79702069,2	K562	blood:
7	chr4:79583221..79584780-chr4:79699632..79701353,2	MCF-7	breast:
8	chr4:79566015..79567656-chr4:79699216..79701058,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260278	TF binding region
ENSG00000251442	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35103022	1.00[AMR][1000 genomes]
rs890303	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv1792429	chr4:79697116-79704210	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1798320	chr4:79697116-79704210	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1801852	chr4:79697116-79704210	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1802642	chr4:79697116-79704210	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1802703	chr4:79697116-79704210	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1833723	chr4:79697116-79704210	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv1833992	chr4:79697116-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv1835474	chr4:79697116-79704210	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv1837381	chr4:79697116-79704210	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1845915	chr4:79697116-79704210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79696000-79699800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:79696200-79699800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:79696200-79699800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:79696200-79699800	Active TSS	Thymus	Thymus
5	chr4:79696200-79699800	Active TSS	NHDF-Ad	bronchial
6	chr4:79696200-79700200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:79696200-79700800	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:79696400-79700000	Active TSS	K562	blood
9	chr4:79696400-79700800	Active TSS	Fetal Intestine Small	intestine
10	chr4:79696600-79699800	Active TSS	HSMMtube	muscle
11	chr4:79696600-79700600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:79696600-79700600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:79696600-79701000	Active TSS	Fetal Intestine Large	intestine
14	chr4:79696600-79701000	Active TSS	NHLF	lung
15	chr4:79697600-79700800	Active TSS	Right Atrium	heart
16	chr4:79698000-79700600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:79698200-79700200	Flanking Active TSS	HUVEC	blood vessel
18	chr4:79698200-79700800	Flanking Active TSS	Dnd41	blood
19	chr4:79698200-79701200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:79698400-79700400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:79698600-79699800	Active TSS	Fetal Heart	heart
22	chr4:79698600-79700000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:79698600-79700000	Active TSS	Brain Hippocampus Middle	brain
24	chr4:79698600-79700000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr4:79698600-79700000	Active TSS	Fetal Muscle Leg	muscle
26	chr4:79698600-79700200	Active TSS	Brain Angular Gyrus	brain
27	chr4:79698600-79700200	Active TSS	Brain Substantia Nigra	brain
28	chr4:79698600-79700400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:79698600-79700600	Active TSS	Brain Anterior Caudate	brain
30	chr4:79698600-79700800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:79698600-79701200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:79698600-79702200	Weak transcription	Gastric	stomach
33	chr4:79698600-79702200	Weak transcription	Spleen	Spleen
34	chr4:79698600-79703200	Weak transcription	Ovary	ovary
35	chr4:79698600-79708600	Weak transcription	Pancreas	Pancrea
36	chr4:79698800-79699800	Active TSS	Fetal Brain Female	brain
37	chr4:79698800-79700000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr4:79698800-79700000	Weak transcription	Aorta	Aorta
39	chr4:79698800-79700200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr4:79698800-79700400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:79698800-79700400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr4:79698800-79700400	Enhancers	Fetal Lung	lung
43	chr4:79698800-79703200	Weak transcription	Stomach Mucosa	stomach
44	chr4:79698800-79705200	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:79699000-79699800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:79699000-79699800	Weak transcription	Placenta	Placenta
47	chr4:79699000-79699800	Weak transcription	Hela-S3	cervix
48	chr4:79699000-79700000	Active TSS	Brain Cingulate Gyrus	brain
49	chr4:79699000-79700000	Enhancers	A549	lung
50	chr4:79699000-79700200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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