Variant report

Variant	rs11931234
Chromosome Location	chr4:121840374-121840375
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	chr4:121074610..121076477-chr4:121839920..121842193,2	MCF-7	breast:
2	chr4:121639899..121640642-chr4:121840005..121841112,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10034779	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11935242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11939905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942389	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1450476	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1450478	1.00[CHB][hapmap]
rs17051268	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17051269	1.00[JPT][hapmap]
rs17051270	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17051274	1.00[JPT][hapmap]
rs17051280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2278811	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667188	1.00[JPT][hapmap]
rs2667195	0.88[CHB][hapmap]
rs3115311	0.88[CHB][hapmap]
rs343167	0.88[CHB][hapmap]
rs343168	0.88[CHB][hapmap]
rs343170	0.88[CHB][hapmap]
rs3761726	0.93[ASN][1000 genomes]
rs4833688	1.00[JPT][hapmap]
rs4833695	0.81[ASN][1000 genomes]
rs55930284	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55962052	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56004809	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56270962	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56339840	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60983006	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6857653	0.81[ASN][1000 genomes]
rs73843656	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73843658	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73843660	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7689532	0.81[ASN][1000 genomes]
rs885460	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:121813400-121841600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:121813800-121842400	Weak transcription	NHEK	skin
4	chr4:121814600-121842600	Weak transcription	Right Ventricle	heart
5	chr4:121818000-121842400	Weak transcription	NH-A	brain
6	chr4:121823800-121842400	Weak transcription	HSMM	muscle
7	chr4:121824800-121840400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:121825000-121842600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:121825600-121842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:121827600-121842400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:121837000-121842800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:121837400-121842600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:121838400-121840800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:121838400-121841200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:121838400-121841200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:121838400-121841200	Weak transcription	NHLF	lung
17	chr4:121838400-121842400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:121838400-121842400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:121838400-121842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:121838400-121842600	Weak transcription	Gastric	stomach
21	chr4:121838600-121842400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:121838800-121842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:121839200-121840600	Enhancers	Fetal Heart	heart
24	chr4:121839200-121841600	Enhancers	Fetal Lung	lung
25	chr4:121839200-121842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:121839200-121842600	Enhancers	Fetal Intestine Small	intestine
27	chr4:121839400-121840600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr4:121839400-121840600	Enhancers	Stomach Mucosa	stomach
29	chr4:121839400-121841000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:121839400-121841400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:121839400-121842000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:121839400-121842400	Enhancers	Fetal Intestine Large	intestine
33	chr4:121839400-121842600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:121839600-121840400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr4:121839600-121842400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:121839800-121840400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:121839800-121840400	Enhancers	Aorta	Aorta
38	chr4:121839800-121840400	Enhancers	Fetal Muscle Leg	muscle
39	chr4:121839800-121840400	Enhancers	Small Intestine	intestine
40	chr4:121839800-121840600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:121839800-121840600	Enhancers	Adipose Nuclei	Adipose
42	chr4:121839800-121840600	Enhancers	Brain Substantia Nigra	brain
43	chr4:121839800-121840600	Enhancers	Fetal Stomach	stomach
44	chr4:121839800-121840600	Enhancers	Psoas Muscle	Psoas
45	chr4:121839800-121840600	Enhancers	Osteobl	bone
46	chr4:121839800-121840800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:121839800-121841000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:121839800-121841000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:121839800-121841600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:121839800-121841800	Enhancers	Ovary	ovary

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