Variant report

Variant	rs8008415
Chromosome Location	chr14:71198670-71198671
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71192214..71195072-chr14:71196372..71198780,2	K562	blood:
2	chr14:71196902..71199011-chr14:71204967..71206734,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7159957	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71180800-71200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:71185400-71198800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:71185800-71219200	Weak transcription	Stomach Mucosa	stomach
4	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
6	chr14:71189800-71209400	Strong transcription	Fetal Brain Female	brain
7	chr14:71190000-71214400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:71191400-71220000	Weak transcription	Fetal Brain Male	brain
9	chr14:71191600-71220200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:71192400-71220200	Weak transcription	Fetal Kidney	kidney
11	chr14:71192600-71221800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:71193400-71211400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:71193600-71199400	Strong transcription	A549	lung
14	chr14:71193600-71210200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:71193800-71209400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:71193800-71209400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:71194000-71208400	Weak transcription	Brain Substantia Nigra	brain
18	chr14:71194000-71222000	Weak transcription	HSMMtube	muscle
19	chr14:71194200-71209600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:71194400-71201800	Weak transcription	Right Atrium	heart
21	chr14:71194400-71210400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:71194400-71213400	Weak transcription	Psoas Muscle	Psoas
23	chr14:71194400-71221600	Weak transcription	Left Ventricle	heart
24	chr14:71194600-71218600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:71194600-71221600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:71194800-71199400	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:71195000-71198800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:71195400-71200800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:71195400-71200800	Strong transcription	Primary B cells from cord blood	blood
30	chr14:71195400-71201600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:71195600-71200200	Strong transcription	Pancreas	Pancrea
32	chr14:71195600-71202200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr14:71195600-71209400	Strong transcription	Placenta	Placenta
34	chr14:71195600-71209600	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr14:71195600-71210000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr14:71196000-71199000	Strong transcription	Brain Cingulate Gyrus	brain
37	chr14:71196000-71199200	Weak transcription	Ovary	ovary
38	chr14:71196000-71200400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:71196000-71200800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:71196200-71201200	Strong transcription	Brain Germinal Matrix	brain
41	chr14:71196200-71209200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:71196200-71217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:71196400-71200200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:71196400-71201800	Strong transcription	Fetal Stomach	stomach
45	chr14:71196400-71202000	Strong transcription	Fetal Intestine Small	intestine
46	chr14:71196400-71209400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:71196600-71199200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:71196600-71200600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:71196600-71200600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:71196600-71201600	Strong transcription	Duodenum Mucosa	Duodenum

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