Variant report

Variant	rs547264806
Chromosome Location	chr3:52088665-52088666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52087181..52088866-chr3:52188475..52190351,2	K562	blood:
2	chr3:52028475..52031255-chr3:52087467..52089239,2	MCF-7	breast:
3	chr3:52087390..52089445-chr3:52228138..52231082,2	K562	blood:
4	chr3:52088419..52090155-chr3:52113932..52115849,2	K562	blood:
5	chr3:52026823..52031380-chr3:52087204..52091486,4	K562	blood:
6	chr3:51974895..51976742-chr3:52087202..52089493,2	K562	blood:
7	chr3:52088633..52090447-chr3:52187469..52189147,2	MCF-7	breast:
8	chr3:52088485..52093169-chr3:52093699..52100396,11	MCF-7	breast:
9	chr3:52015921..52019600-chr3:52088214..52092499,4	K562	blood:
10	chr3:52088066..52089919-chr3:52114349..52115931,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000243989	Chromatin interaction
ENSG00000114767	Chromatin interaction
ENSG00000256097	Chromatin interaction
ENSG00000164087	Chromatin interaction
ENSG00000041880	Chromatin interaction
ENSG00000162244	Chromatin interaction
ENSG00000114779	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
9	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	esv1792042	chr3:52070955-52091254	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
12	esv1793040	chr3:52070955-52091254	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv1797975	chr3:52070955-52091254	Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1798814	chr3:52070955-52091254	Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv1797189	chr3:52070955-52101799	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	esv1798365	chr3:52070955-52101799	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	nsv590281	chr3:52088204-52090396	Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv590282	chr3:52088204-52097060	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52081600-52088800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:52083200-52090200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:52084800-52088800	Transcr. at gene 5' and 3'	NHEK	skin
4	chr3:52084800-52090000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:52085000-52089200	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:52085000-52090200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:52085200-52088800	Weak transcription	Small Intestine	intestine
8	chr3:52085400-52088800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr3:52085400-52088800	Enhancers	Stomach Mucosa	stomach
10	chr3:52085400-52089000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
11	chr3:52085600-52088800	Genic enhancers	Fetal Intestine Small	intestine
12	chr3:52085600-52088800	Transcr. at gene 5' and 3'	HMEC	breast
13	chr3:52085800-52088800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
14	chr3:52085800-52088800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:52085800-52088800	Weak transcription	Ovary	ovary
16	chr3:52085800-52089000	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr3:52085800-52089000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr3:52085800-52089000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:52086000-52089000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:52086000-52089000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr3:52086000-52089400	Enhancers	Fetal Heart	heart
22	chr3:52086200-52089000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr3:52086200-52089000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
24	chr3:52086200-52090000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr3:52086400-52089000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
26	chr3:52086400-52090200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr3:52086600-52089000	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
28	chr3:52086800-52088800	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
29	chr3:52086800-52089000	Flanking Active TSS	GM12878-XiMat	blood
30	chr3:52086800-52089400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr3:52086800-52090800	Active TSS	Rectal Smooth Muscle	rectum
32	chr3:52087000-52089200	Enhancers	Primary B cells from cord blood	blood
33	chr3:52087200-52088800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
34	chr3:52087400-52088800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:52087400-52089200	Enhancers	HepG2	liver
36	chr3:52087400-52091800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:52087600-52088800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:52087600-52088800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:52087600-52088800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:52087600-52088800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:52087600-52088800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:52087600-52088800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr3:52087600-52088800	Genic enhancers	K562	blood
44	chr3:52087600-52090800	Enhancers	Fetal Brain Male	brain
45	chr3:52087800-52088800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:52087800-52089000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:52088000-52088800	Weak transcription	Fetal Intestine Large	intestine
48	chr3:52088000-52089000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:52088000-52090200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr3:52088200-52088800	Weak transcription	H9 Cell Line	embryonic stem cell

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