Variant report

Variant	rs2704761
Chromosome Location	chr12:63194319-63194320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62993432..63001334-chr12:63185505..63196473,30	MCF-7	breast:
2	chr12:62996654..62999320-chr12:63190333..63195111,6	MCF-7	breast:
3	chr12:63191798..63194501-chr12:63197059..63199870,2	MCF-7	breast:
4	chr12:63001464..63003461-chr12:63192756..63195613,2	MCF-7	breast:

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2652028	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663959	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2704758	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704759	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704763	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478720	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs479646	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs500505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs506821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518285	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs535206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs563718	0.81[AFR][1000 genomes]
rs564501	0.81[AFR][1000 genomes]
rs593350	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs627273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639821	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs642388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679811	0.80[AFR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
2	chr12:63180400-63199000	Weak transcription	Aorta	Aorta
3	chr12:63181200-63197800	Weak transcription	Spleen	Spleen
4	chr12:63181200-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:63181200-63200400	Weak transcription	Lung	lung
6	chr12:63181600-63194600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:63182600-63195200	Weak transcription	Fetal Stomach	stomach
8	chr12:63184000-63194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:63186400-63195200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:63186400-63198000	Weak transcription	Ovary	ovary
11	chr12:63187200-63194600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:63187800-63194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:63187800-63196800	Weak transcription	Brain Angular Gyrus	brain
14	chr12:63187800-63205200	Weak transcription	K562	blood
15	chr12:63187800-63206400	Weak transcription	Osteobl	bone
16	chr12:63187800-63206800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:63188000-63194600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:63188000-63194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:63188000-63194600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:63188000-63194800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:63188000-63198800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:63188000-63206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:63188400-63194600	Weak transcription	NHDF-Ad	bronchial
25	chr12:63188600-63194600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:63188600-63197000	Weak transcription	Brain Substantia Nigra	brain
27	chr12:63188600-63197600	Weak transcription	Liver	Liver
28	chr12:63188800-63194600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:63190000-63196400	Strong transcription	HepG2	liver
30	chr12:63191600-63195200	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:63191800-63195200	Weak transcription	Fetal Intestine Large	intestine
32	chr12:63192000-63195400	Weak transcription	Right Ventricle	heart
33	chr12:63192600-63195400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:63192600-63195400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:63192800-63195600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:63193000-63194400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:63193000-63194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:63193000-63196200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:63193000-63201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:63193400-63194800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:63193400-63194800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:63193400-63206800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:63193600-63194400	Enhancers	Placenta	Placenta
45	chr12:63193600-63194600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:63193600-63196400	Strong transcription	Fetal Intestine Small	intestine
47	chr12:63193800-63194600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:63193800-63194800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:63193800-63195400	Weak transcription	Gastric	stomach
50	chr12:63194000-63198800	Weak transcription	GM12878-XiMat	blood

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