Variant report

Variant	rs11057402
Chromosome Location	chr12:124430767-124430768
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124426014..124428363-chr12:124429735..124431659,2	K562	blood:

Variant related genes	Relation type
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3867146	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707334	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825510	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
2	chr12:124418000-124431000	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:124418200-124430800	Strong transcription	Stomach Smooth Muscle	stomach
4	chr12:124418200-124431400	Strong transcription	Fetal Stomach	stomach
5	chr12:124418600-124430800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:124420200-124433000	Weak transcription	Small Intestine	intestine
7	chr12:124420600-124430800	Strong transcription	Pancreas	Pancrea
8	chr12:124420800-124432600	Weak transcription	HepG2	liver
9	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
10	chr12:124423000-124432800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:124423600-124430800	Weak transcription	Dnd41	blood
12	chr12:124423600-124431600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:124423600-124442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:124424000-124431200	Strong transcription	Primary T cells from cord blood	blood
15	chr12:124426200-124430800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr12:124426800-124436800	Weak transcription	NHLF	lung
17	chr12:124427000-124431200	Strong transcription	Spleen	Spleen
18	chr12:124427000-124431400	Strong transcription	Fetal Intestine Small	intestine
19	chr12:124427000-124431600	Strong transcription	Fetal Intestine Large	intestine
20	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:124427200-124434000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:124427200-124436800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
24	chr12:124427400-124436200	Enhancers	Fetal Brain Male	brain
25	chr12:124427600-124431200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:124427800-124431800	Enhancers	Brain Substantia Nigra	brain
27	chr12:124427800-124436800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:124427800-124444800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:124427800-124453400	Weak transcription	A549	lung
30	chr12:124428200-124432600	Weak transcription	Colonic Mucosa	Colon
31	chr12:124428400-124431000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:124428400-124431200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:124428600-124430800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:124428600-124433000	Weak transcription	NH-A	brain
37	chr12:124428800-124432000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:124428800-124433600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:124428800-124436400	Weak transcription	Fetal Heart	heart
40	chr12:124428800-124449800	Weak transcription	HSMM	muscle
41	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:124429000-124431200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:124429200-124431000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:124429400-124430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:124429600-124431400	Enhancers	Brain Anterior Caudate	brain
46	chr12:124429600-124431800	Enhancers	Brain Angular Gyrus	brain
47	chr12:124429800-124432600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:124429800-124433200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:124430000-124431200	Enhancers	Fetal Brain Female	brain
50	chr12:124430000-124431400	Enhancers	Brain Cingulate Gyrus	brain

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