Variant report

Variant	rs2704758
Chromosome Location	chr12:63187956-63187957
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62967790..62972054-chr12:63185896..63188649,3	MCF-7	breast:
2	chr12:62993432..63001334-chr12:63185505..63196473,30	MCF-7	breast:
3	chr12:62831609..62832559-chr12:63187320..63188381,5	K562	blood:
4	chr12:62831647..62832578-chr12:63187735..63188415,2	MCF-7	breast:
5	chr12:62992552..62995339-chr12:63185731..63187957,2	MCF-7	breast:
6	chr12:63107577..63110076-chr12:63187039..63189905,2	MCF-7	breast:
7	chr12:62974177..62977292-chr12:63185935..63188688,3	MCF-7	breast:
8	chr12:63025299..63026232-chr12:63187496..63188274,4	MCF-7	breast:
9	chr12:62974989..62976277-chr12:63187424..63188756,15	MCF-7	breast:
10	chr12:62975343..62976253-chr12:63187681..63188422,5	MCF-7	breast:
11	chr12:62996606..62997567-chr12:63187440..63188414,3	MCF-7	breast:
12	chr12:62995553..62999958-chr12:63184749..63190188,10	MCF-7	breast:
13	chr12:62996676..62998066-chr12:63187354..63188355,8	MCF-7	breast:
14	chr12:62993534..62994890-chr12:63187464..63188240,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000221949	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2641553	0.83[MKK][hapmap]
rs2652028	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652031	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663955	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663959	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704759	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704761	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704763	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478720	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs479646	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs500505	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs506821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518285	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs535206	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536052	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs593350	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs627273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642388	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63193600	Weak transcription	Gastric	stomach
2	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
3	chr12:63178400-63192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:63180400-63192200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:63180400-63199000	Weak transcription	Aorta	Aorta
6	chr12:63180600-63188400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:63181200-63197800	Weak transcription	Spleen	Spleen
8	chr12:63181200-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:63181200-63200400	Weak transcription	Lung	lung
10	chr12:63181600-63191000	Weak transcription	Fetal Intestine Large	intestine
11	chr12:63181600-63194600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:63182000-63193800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:63182400-63192600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:63182600-63195200	Weak transcription	Fetal Stomach	stomach
15	chr12:63183000-63190000	Weak transcription	Fetal Intestine Small	intestine
16	chr12:63184000-63194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:63184800-63190000	Weak transcription	HepG2	liver
18	chr12:63185400-63188200	Enhancers	Fetal Brain Male	brain
19	chr12:63185600-63188800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:63185800-63188400	Enhancers	NHDF-Ad	bronchial
21	chr12:63186000-63188400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:63186000-63189000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:63186200-63188400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:63186200-63188600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:63186200-63188600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:63186400-63189000	Enhancers	A549	lung
27	chr12:63186400-63195200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:63186400-63198000	Weak transcription	Ovary	ovary
29	chr12:63186600-63188600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:63186800-63188400	Enhancers	Brain Hippocampus Middle	brain
31	chr12:63186800-63188600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:63187000-63188000	Enhancers	Fetal Muscle Leg	muscle
33	chr12:63187000-63188000	Enhancers	Stomach Mucosa	stomach
34	chr12:63187000-63188400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:63187000-63188600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:63187000-63188800	Enhancers	Brain Cingulate Gyrus	brain
37	chr12:63187200-63188000	Enhancers	Brain Substantia Nigra	brain
38	chr12:63187200-63188000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr12:63187200-63194600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:63187400-63188000	Enhancers	HUVEC	blood vessel
41	chr12:63187400-63188600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:63187400-63188600	Enhancers	Liver	Liver
43	chr12:63187400-63188800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:63187600-63188000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:63187600-63188000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr12:63187600-63188000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:63187600-63188000	Enhancers	Adipose Nuclei	Adipose
48	chr12:63187600-63188000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr12:63187600-63188000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:63187600-63188000	Enhancers	Fetal Kidney	kidney

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