Variant report

Variant	rs35902603
Chromosome Location	chr12:48468159-48468160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48466511..48469101-chr12:48476522..48478242,2	K562	blood:
2	chr12:48459266..48462435-chr12:48465980..48469483,3	K562	blood:
3	chr12:48468062..48470836-chr12:48471643..48474168,2	K562	blood:

Variant related genes	Relation type
ENSG00000079387	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10467100	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]
rs11830088	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830546	1.00[ASN][1000 genomes]
rs11833896	1.00[AFR][1000 genomes];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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838217	0.85[AFR][1000 genomes];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]
rs34698661	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]
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[AFR][1000 genomes];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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59339937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60001274	0.83[AFR][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs60894356	1.00[EUR][1000 genomes];1.00[ASN][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:48435200-48476200	Weak transcription	Stomach Mucosa	stomach
3	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:48441400-48482600	Weak transcription	Small Intestine	intestine
5	chr12:48443000-48478800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:48444200-48474600	Weak transcription	Gastric	stomach
7	chr12:48452000-48468600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:48452000-48468800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:48452000-48468800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:48452000-48469400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:48452200-48468600	Strong transcription	NH-A	brain
12	chr12:48452200-48468800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:48452200-48469000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:48452200-48469600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:48452200-48470000	Strong transcription	Placenta	Placenta
16	chr12:48452400-48468800	Strong transcription	Adipose Nuclei	Adipose
17	chr12:48452400-48468800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:48452400-48468800	Strong transcription	Fetal Thymus	thymus
19	chr12:48452400-48469600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:48452600-48468400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:48452800-48468600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:48453000-48468400	Strong transcription	Fetal Lung	lung
23	chr12:48453000-48468800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:48453000-48469200	Weak transcription	Fetal Heart	heart
25	chr12:48453000-48498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:48453200-48469200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:48453600-48469800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:48453600-48471200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:48453800-48469000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:48453800-48469000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:48453800-48469000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:48453800-48469000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:48453800-48469400	Strong transcription	A549	lung
34	chr12:48453800-48474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:48454000-48469000	Strong transcription	Liver	Liver
36	chr12:48454000-48494000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:48454600-48469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:48454600-48478800	Weak transcription	Pancreas	Pancrea
39	chr12:48454800-48472000	Strong transcription	Dnd41	blood
40	chr12:48455600-48469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:48456200-48469600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:48457400-48482000	Weak transcription	Right Ventricle	heart
43	chr12:48457600-48478600	Weak transcription	HSMMtube	muscle
44	chr12:48459200-48479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:48460800-48468200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:48460800-48469800	Strong transcription	Primary T cells from cord blood	blood
47	chr12:48461000-48468800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:48461000-48469000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:48461400-48468400	Strong transcription	GM12878-XiMat	blood
50	chr12:48462200-48468400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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