Variant report

Variant	rs10140478
Chromosome Location	chr14:71190526-71190527
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71189704..71191620-chr14:71192243..71194827,2	MCF-7	breast:
2	chr14:71189656..71192635-chr14:71218301..71220303,2	MCF-7	breast:
3	chr14:71189314..71191908-chr14:71220289..71222021,3	MCF-7	breast:
4	chr14:71188747..71190799-chr14:71193873..71196833,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED6-3	chr14:71189244-71193302	NONHSAT037576

Variant related genes	Relation type
ENSG00000006432	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10129245	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71177200-71195600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:71179800-71193200	Weak transcription	Right Atrium	heart
3	chr14:71180600-71193800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:71180600-71196800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:71180600-71196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:71180800-71193600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:71180800-71196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:71180800-71200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:71181200-71195800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:71183200-71192200	Enhancers	Fetal Intestine Large	intestine
11	chr14:71184400-71194400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:71185400-71198800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:71185800-71196400	Weak transcription	Colonic Mucosa	Colon
14	chr14:71185800-71196600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:71185800-71198600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:71185800-71219200	Weak transcription	Stomach Mucosa	stomach
17	chr14:71186000-71190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:71186000-71190600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:71186000-71195400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:71186000-71195600	Weak transcription	Pancreas	Pancrea
21	chr14:71186000-71196600	Weak transcription	Gastric	stomach
22	chr14:71186000-71196600	Weak transcription	Lung	lung
23	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
25	chr14:71188000-71196800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:71188600-71190600	Weak transcription	NHEK	skin
27	chr14:71188600-71193200	Weak transcription	Adipose Nuclei	Adipose
28	chr14:71188600-71195600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:71188600-71198600	Weak transcription	Liver	Liver
30	chr14:71188800-71190800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:71188800-71191200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:71188800-71192800	Weak transcription	Psoas Muscle	Psoas
33	chr14:71188800-71193400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:71188800-71194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:71188800-71198400	Strong transcription	HMEC	breast
36	chr14:71189600-71193800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:71189600-71196000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:71189600-71196000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:71189800-71190600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:71189800-71192000	Enhancers	Esophagus	oesophagus
41	chr14:71189800-71209400	Strong transcription	Fetal Brain Female	brain
42	chr14:71190000-71192000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:71190000-71192400	Enhancers	Placenta	Placenta
44	chr14:71190000-71193000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:71190000-71196200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:71190000-71214400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:71190200-71190600	Weak transcription	HepG2	liver
48	chr14:71190200-71191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:71190200-71194000	Weak transcription	Fetal Intestine Small	intestine
50	chr14:71190400-71193400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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