Variant report

Variant	rs11124512
Chromosome Location	chr2:36615195-36615196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36613783..36616310-chr2:36620739..36623500,2	MCF-7	breast:
2	chr2:36604191..36607049-chr2:36612212..36615757,3	K562	blood:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction

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

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

rs_ID	r²[population]
rs11673762	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs17018688	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17018699	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17018723	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2192920	0.85[EUR][1000 genomes]
rs3770883	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3770884	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs3770887	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3770888	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs3770891	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs3770899	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3770903	0.82[EUR][1000 genomes]
rs3770910	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3770914	0.86[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3770922	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770926	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770927	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770930	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770937	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821164	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4670552	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs876458	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.85[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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36604000-36617000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:36604400-36615400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:36604400-36615600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:36604400-36616400	Weak transcription	Gastric	stomach
6	chr2:36604400-36620600	Weak transcription	Fetal Brain Male	brain
7	chr2:36604400-36640400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:36604400-36640600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:36604600-36617600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:36604600-36620800	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:36607600-36620800	Weak transcription	Pancreas	Pancrea
12	chr2:36607800-36615800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:36608600-36616200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:36608600-36616200	Weak transcription	Fetal Stomach	stomach
15	chr2:36608800-36615600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:36608800-36615600	Weak transcription	Fetal Kidney	kidney
17	chr2:36608800-36615600	Weak transcription	Fetal Lung	lung
18	chr2:36609000-36615800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:36609200-36619800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:36609400-36615600	Weak transcription	Fetal Intestine Small	intestine
21	chr2:36609400-36620000	Weak transcription	Lung	lung
22	chr2:36609800-36615600	Weak transcription	Ovary	ovary
23	chr2:36610400-36617800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:36611600-36615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:36611600-36616800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:36611600-36619800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:36611600-36632400	Weak transcription	Esophagus	oesophagus
28	chr2:36611600-36635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:36612000-36616600	Enhancers	NHLF	lung
30	chr2:36612200-36615600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:36612200-36615600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:36612600-36615800	Enhancers	NHDF-Ad	bronchial
33	chr2:36612800-36615400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:36613000-36615600	Weak transcription	Fetal Brain Female	brain
35	chr2:36613000-36615600	Weak transcription	Left Ventricle	heart
36	chr2:36613000-36615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:36613000-36615800	Weak transcription	Right Atrium	heart
38	chr2:36613000-36617000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:36613000-36624000	Weak transcription	Small Intestine	intestine
40	chr2:36613200-36616400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:36613400-36616400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:36613600-36617000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:36613600-36617200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:36613800-36617000	Genic enhancers	HepG2	liver
45	chr2:36614000-36615600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:36614000-36615600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:36614000-36615600	Enhancers	HSMMtube	muscle
48	chr2:36614000-36616400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:36614000-36617400	Transcr. at gene 5' and 3'	A549	lung
50	chr2:36614000-36617600	Enhancers	Fetal Heart	heart

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