Variant report

Variant	rs7104647
Chromosome Location	chr11:120398250-120398251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13377589	1.00[EUR][1000 genomes]
rs7104057	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7104087	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7104208	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7104659	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7104892	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7120265	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120388800-120403400	Weak transcription	Right Atrium	heart
2	chr11:120395000-120398400	Enhancers	Fetal Intestine Large	intestine
3	chr11:120395000-120399000	Weak transcription	Spleen	Spleen
4	chr11:120395600-120399000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:120396400-120398400	Enhancers	Fetal Intestine Small	intestine
6	chr11:120396400-120398600	Enhancers	Fetal Lung	lung
7	chr11:120397200-120398800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:120397400-120398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:120397400-120398800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:120397600-120398400	Enhancers	Brain Cingulate Gyrus	brain
11	chr11:120397600-120398400	Bivalent Enhancer	Fetal Stomach	stomach
12	chr11:120397600-120398400	Enhancers	NH-A	brain
13	chr11:120397600-120398400	Enhancers	NHLF	lung
14	chr11:120397600-120398600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:120397600-120398600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:120397600-120398600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:120397600-120398600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:120397600-120398600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:120397600-120398600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:120397600-120398600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:120397600-120398600	Enhancers	Brain Anterior Caudate	brain
22	chr11:120397600-120398600	Enhancers	HSMMtube	muscle
23	chr11:120397600-120398800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:120397600-120398800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:120397600-120398800	Enhancers	Fetal Muscle Leg	muscle
26	chr11:120397800-120398400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:120397800-120398600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:120397800-120398600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:120397800-120398600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:120397800-120398600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:120397800-120398600	Enhancers	Brain Substantia Nigra	brain
32	chr11:120397800-120398600	Enhancers	Ovary	ovary
33	chr11:120397800-120398800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:120398000-120398400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:120398000-120398400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:120398000-120398400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:120398000-120398400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:120398000-120398400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:120398000-120398400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:120398000-120398400	Enhancers	Brain Angular Gyrus	brain
41	chr11:120398000-120398600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:120398000-120398600	Bivalent Enhancer	Placenta	Placenta
43	chr11:120398000-120398600	Bivalent Enhancer	HSMM	muscle
44	chr11:120398200-120398400	Enhancers	Brain Hippocampus Middle	brain
45	chr11:120398200-120398600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:120398200-120398600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:120398200-120398600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr11:120398200-120398600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:120398200-120398600	Enhancers	Fetal Brain Male	brain

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