Variant report

Variant	rs534990360
Chromosome Location	chr3:134192646-134192647
allele	A/G
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134024950..134033700-chr3:134189216..134199294,13	MCF-7	breast:
2	chr3:134092717..134095501-chr3:134190720..134194395,3	MCF-7	breast:
3	chr3:134191379..134193880-chr3:134203414..134206038,3	MCF-7	breast:
4	chr3:134188763..134190548-chr3:134191241..134193018,3	MCF-7	breast:
5	chr3:134026656..134027867-chr3:134192501..134193467,17	MCF-7	breast:
6	chr3:134087226..134089802-chr3:134191337..134194305,2	MCF-7	breast:
7	chr3:134077038..134077967-chr3:134192480..134193108,3	K562	blood:
8	chr3:134015794..134017542-chr3:134192184..134194395,2	K562	blood:
9	chr3:134075315..134078566-chr3:134189782..134194003,4	MCF-7	breast:
10	chr3:134091204..134095146-chr3:134189472..134194570,7	MCF-7	breast:
11	chr3:134191815..134194495-chr3:134200206..134203581,3	K562	blood:
12	chr3:134026309..134027866-chr3:134192546..134193488,7	MCF-7	breast:
13	chr3:134027069..134028938-chr3:134191393..134194235,2	MCF-7	breast:
14	chr3:134172461..134174570-chr3:134191518..134193817,2	MCF-7	breast:
15	chr3:134070789..134073283-chr3:134191774..134193534,2	MCF-7	breast:
16	chr3:134032191..134034661-chr3:134191037..134192947,2	MCF-7	breast:
17	chr3:134097967..134100693-chr3:134192523..134195413,2	MCF-7	breast:
18	chr3:134027278..134027877-chr3:134192552..134193439,4	K562	blood:
19	chr3:134083001..134085504-chr3:134191468..134193210,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114019	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000214289	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv460858	chr3:134191938-134195885	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv591828	chr3:134191938-134195885	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134181800-134195000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:134182400-134195200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:134182800-134195200	Weak transcription	Colonic Mucosa	Colon
4	chr3:134182800-134195400	Weak transcription	Small Intestine	intestine
5	chr3:134182800-134199400	Weak transcription	Pancreas	Pancrea
6	chr3:134183600-134195000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:134183800-134195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:134183800-134195800	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:134183800-134203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:134184000-134193800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:134184000-134197000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:134184000-134197000	Weak transcription	Ovary	ovary
13	chr3:134184000-134199400	Weak transcription	Aorta	Aorta
14	chr3:134184000-134203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:134184200-134194600	Weak transcription	Brain Germinal Matrix	brain
16	chr3:134184600-134195600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:134185400-134194800	Weak transcription	Fetal Brain Female	brain
18	chr3:134185600-134194200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:134186000-134197000	Weak transcription	Fetal Brain Male	brain
20	chr3:134186800-134195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:134186800-134195200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:134187600-134195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:134188200-134195000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:134188800-134193800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:134189000-134193000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:134189200-134195600	Weak transcription	Thymus	Thymus
27	chr3:134189600-134194400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:134190000-134193600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:134190000-134194400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:134190000-134195000	Weak transcription	GM12878-XiMat	blood
31	chr3:134190200-134193000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:134190400-134195000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:134190600-134194600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:134190600-134199400	Weak transcription	Gastric	stomach
35	chr3:134190800-134193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:134190800-134194600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:134190800-134195200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:134190800-134203600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:134191000-134193600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:134191000-134194600	Weak transcription	Spleen	Spleen
41	chr3:134191000-134195200	Weak transcription	Right Atrium	heart
42	chr3:134191000-134195400	Weak transcription	Fetal Lung	lung
43	chr3:134191200-134194600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:134191400-134193800	Weak transcription	Esophagus	oesophagus
45	chr3:134191400-134195000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:134191400-134195200	Weak transcription	Left Ventricle	heart
47	chr3:134191400-134196600	Weak transcription	K562	blood
48	chr3:134191600-134192800	Weak transcription	Fetal Kidney	kidney
49	chr3:134191600-134193000	Enhancers	Adipose Nuclei	Adipose
50	chr3:134191600-134193000	Enhancers	Hela-S3	cervix

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