Variant report

Variant	rs639821
Chromosome Location	chr12:63192849-63192850
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62993432..63001334-chr12:63185505..63196473,30	MCF-7	breast:
2	chr12:62831657..62832888-chr12:63192399..63193280,4	MCF-7	breast:
3	chr12:62996654..62999320-chr12:63190333..63195111,6	MCF-7	breast:
4	chr12:62831671..62832509-chr12:63192526..63193551,3	MCF-7	breast:
5	chr12:62974960..62975888-chr12:63192595..63193176,3	MCF-7	breast:
6	chr12:62975333..62976159-chr12:63192607..63193594,6	MCF-7	breast:
7	chr12:63191798..63194501-chr12:63197059..63199870,2	MCF-7	breast:
8	chr12:63191292..63194006-chr12:63325673..63328031,2	MCF-7	breast:
9	chr12:62976141..62978967-chr12:63191225..63193730,3	MCF-7	breast:
10	chr12:63001464..63003461-chr12:63192756..63195613,2	MCF-7	breast:
11	chr12:63192679..63193429-chr12:63328581..63329574,2	MCF-7	breast:
12	chr12:62916535..62917392-chr12:63192666..63193171,2	K562	blood:
13	chr12:62831607..62832568-chr12:63192621..63193495,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction

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

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

rs_ID	r²[population]
rs2652028	0.80[AFR][1000 genomes]
rs2652029	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2652030	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2663955	0.94[AFR][1000 genomes]
rs2663957	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2663959	0.81[AFR][1000 genomes]
rs2704761	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2704763	0.82[AFR][1000 genomes]
rs2704764	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337516	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs337517	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs500505	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs510656	0.91[AFR][1000 genomes]
rs518285	0.80[YRI][hapmap]
rs535206	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs536052	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs563718	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs564501	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627273	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs679811	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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:59 , 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	chr12:63180400-63199000	Weak transcription	Aorta	Aorta
4	chr12:63181200-63197800	Weak transcription	Spleen	Spleen
5	chr12:63181200-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:63181200-63200400	Weak transcription	Lung	lung
7	chr12:63181600-63194600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:63182000-63193800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:63182600-63195200	Weak transcription	Fetal Stomach	stomach
10	chr12:63184000-63194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:63186400-63195200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:63186400-63198000	Weak transcription	Ovary	ovary
13	chr12:63187200-63194600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:63187600-63193600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:63187800-63194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:63187800-63196800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:63187800-63205200	Weak transcription	K562	blood
18	chr12:63187800-63206400	Weak transcription	Osteobl	bone
19	chr12:63187800-63206800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:63188000-63193200	Weak transcription	Stomach Mucosa	stomach
22	chr12:63188000-63194600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:63188000-63194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:63188000-63194600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:63188000-63194800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:63188000-63198800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:63188000-63206800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:63188400-63194600	Weak transcription	NHDF-Ad	bronchial
29	chr12:63188600-63194600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:63188600-63197000	Weak transcription	Brain Substantia Nigra	brain
31	chr12:63188600-63197600	Weak transcription	Liver	Liver
32	chr12:63188800-63194600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:63189000-63193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:63190000-63196400	Strong transcription	HepG2	liver
35	chr12:63190600-63193600	Weak transcription	Fetal Intestine Small	intestine
36	chr12:63191000-63193000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:63191600-63195200	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:63191800-63195200	Weak transcription	Fetal Intestine Large	intestine
39	chr12:63192000-63195400	Weak transcription	Right Ventricle	heart
40	chr12:63192200-63193200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:63192400-63193000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:63192400-63193400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:63192400-63193600	Weak transcription	Placenta	Placenta
44	chr12:63192400-63193600	Enhancers	A549	lung
45	chr12:63192400-63193800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:63192600-63193000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:63192600-63193000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:63192600-63193000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:63192600-63193000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:63192600-63193000	Enhancers	Dnd41	blood

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