Variant report

Variant	rs11057705
Chromosome Location	chr12:122846558-122846559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr12:122846211-122846580	HepG2	liver:	n/a	n/a
2	EP300	chr12:122846079-122846563	HepG2	liver:	n/a	chr12:122846116-122846126
3	NR2F2	chr12:122846009-122846619	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122840952..122843725-chr12:122844619..122847505,2	K562	blood:
2	chr12:122844560..122846867-chr12:122883490..122885773,2	K562	blood:

Variant related genes	Relation type
RPL21P1	TF binding region
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10161184	0.83[AMR][1000 genomes]
rs10161488	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10773090	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10773108	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10773117	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10846714	0.81[ASN][1000 genomes]
rs11057514	0.82[AMR][1000 genomes]
rs11057686	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11057813	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11057819	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1129167	0.83[AMR][1000 genomes]
rs11503023	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12818177	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12828876	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1553178	0.84[ASN][1000 genomes]
rs4758693	0.84[ASN][1000 genomes]
rs4758695	0.84[ASN][1000 genomes]
rs6488947	0.81[ASN][1000 genomes]
rs7313121	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7313284	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961258	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9788228	0.84[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 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	chr12:122812800-122850600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:122818400-122852800	Weak transcription	Stomach Mucosa	stomach
3	chr12:122837000-122851200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:122837600-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
6	chr12:122838600-122852200	Weak transcription	Small Intestine	intestine
7	chr12:122839400-122850200	Weak transcription	Right Atrium	heart
8	chr12:122839600-122851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:122839600-122861800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
11	chr12:122840000-122852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:122840000-122861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:122840000-122862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:122840200-122851000	Weak transcription	NH-A	brain
15	chr12:122840200-122857800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
17	chr12:122841200-122847600	Weak transcription	Esophagus	oesophagus
18	chr12:122843000-122846600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:122843000-122846600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:122843000-122846800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:122843000-122848800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:122843000-122848800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:122843000-122849000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:122843000-122849200	Strong transcription	Placenta	Placenta
25	chr12:122843200-122849000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:122843200-122849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122843400-122846600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:122843400-122846600	Strong transcription	Left Ventricle	heart
29	chr12:122843400-122848800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:122843400-122848800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:122843400-122851000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:122843600-122846600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:122843600-122848800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:122843800-122846600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:122843800-122846600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:122843800-122846600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:122843800-122846600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:122843800-122846600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:122843800-122846600	Strong transcription	HSMMtube	muscle
40	chr12:122843800-122846600	Strong transcription	NHLF	lung
41	chr12:122843800-122848600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:122843800-122848800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:122843800-122848800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:122843800-122848800	Strong transcription	Colon Smooth Muscle	Colon
45	chr12:122843800-122848800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:122843800-122849200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:122843800-122849200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:122844000-122846600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:122844000-122846600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:122844000-122846600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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