Variant report

Variant	rs34698661
Chromosome Location	chr12:48440205-48440206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48409071..48411163-chr12:48439800..48441969,2	MCF-7	breast:
2	chr12:48433439..48436867-chr12:48436934..48440362,3	K562	blood:
3	chr12:48438068..48440402-chr12:48448610..48451360,2	K562	blood:
4	chr12:48415871..48417650-chr12:48439843..48442703,2	MCF-7	breast:
5	chr12:48431984..48434939-chr12:48438010..48440362,2	K562	blood:
6	chr12:48438521..48441289-chr12:48453663..48455764,2	K562	blood:
7	chr12:48417372..48419126-chr12:48439664..48441801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240399	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10467100	1.00[EUR][1000 genomes]
rs11168264	1.00[EUR][1000 genomes]
rs11168288	1.00[EUR][1000 genomes]
rs11168290	1.00[EUR][1000 genomes]
rs11168368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs11830088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830546	1.00[ASN][1000 genomes]
rs11833896	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835145	1.00[ASN][1000 genomes]
rs11835282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836542	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838217	1.00[EUR][1000 genomes]
rs12297117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs34120080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725325	1.00[EUR][1000 genomes]
rs35902603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs57783574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs58373242	1.00[ASN][1000 genomes]
rs58573495	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59339937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs60894356	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316602	1.00[EUR][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs73297159	1.00[EUR][1000 genomes]
rs74086446	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48431800-48456600	Weak transcription	NHLF	lung
2	chr12:48432000-48463400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:48435200-48445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:48435200-48476200	Weak transcription	Stomach Mucosa	stomach
6	chr12:48435400-48444600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:48435400-48457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:48435600-48444800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:48435600-48445800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:48435800-48444600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:48435800-48445800	Strong transcription	Primary B cells from cord blood	blood
12	chr12:48435800-48452400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:48436000-48445000	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:48436000-48445800	Strong transcription	Fetal Thymus	thymus
15	chr12:48436000-48448200	Strong transcription	Primary T cells from cord blood	blood
16	chr12:48436200-48444600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:48436200-48445800	Strong transcription	Dnd41	blood
18	chr12:48436400-48443400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:48436400-48443400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr12:48436400-48444000	Strong transcription	Fetal Lung	lung
21	chr12:48436400-48444200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:48436400-48444200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:48436400-48444200	Strong transcription	Brain Angular Gyrus	brain
24	chr12:48436400-48444600	Strong transcription	Placenta	Placenta
25	chr12:48436400-48444800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:48436400-48445200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:48436600-48440400	Strong transcription	Hela-S3	cervix
28	chr12:48436600-48441200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr12:48436600-48444600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:48436600-48445800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:48436800-48441600	Strong transcription	NHEK	skin
32	chr12:48436800-48441800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:48436800-48443000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:48436800-48443000	Strong transcription	NH-A	brain
35	chr12:48436800-48443800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:48436800-48444200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:48436800-48444600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:48437000-48443200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:48437000-48443400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:48437000-48443800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:48437000-48444400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:48437000-48444400	Strong transcription	Liver	Liver
43	chr12:48437000-48444400	Strong transcription	GM12878-XiMat	blood
44	chr12:48437000-48444600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:48437000-48444600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:48437000-48445400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:48437200-48441600	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:48437200-48443000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:48437400-48444200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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