Variant report

Variant	rs11848938
Chromosome Location	chr14:80044403-80044404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11845389	0.85[YRI][hapmap]
rs11849655	0.85[YRI][hapmap]
rs17109409	0.85[YRI][hapmap]
rs17109694	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80037000-80044600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:80039800-80046200	Weak transcription	HSMMtube	muscle
4	chr14:80040000-80049400	Weak transcription	HSMM	muscle
5	chr14:80041600-80044800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:80041600-80044800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:80041800-80046600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:80042200-80051200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:80042800-80044600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:80043000-80044600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:80043000-80044800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:80043000-80044800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:80043200-80047000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:80043400-80044800	Enhancers	Aorta	Aorta
15	chr14:80043400-80046800	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:80043600-80050600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:80043800-80044800	Enhancers	A549	lung
18	chr14:80044000-80045200	Enhancers	NH-A	brain
19	chr14:80044200-80044600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:80044200-80045200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:80044200-80045200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:80044400-80044800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:80044400-80045000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:80044400-80045400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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