Variant report

Variant	rs12433356
Chromosome Location	chr14:68019608-68019609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67825650..67828725-chr14:68019356..68022032,3	K562	blood:
2	chr14:67980966..67982699-chr14:68018607..68021208,2	MCF-7	breast:
3	chr14:67997531..68001084-chr14:68019141..68020718,3	MCF-7	breast:
4	chr14:67993453..67995268-chr14:68017888..68020164,2	MCF-7	breast:
5	chr14:68014401..68017427-chr14:68018480..68021276,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11158684	0.82[CHB][hapmap]
rs12433821	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12589605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17836795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064929	0.87[CHB][hapmap]
rs6573780	0.87[CHB][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:68001800-68023600	Weak transcription	HepG2	liver
5	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
6	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
7	chr14:68005600-68023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:68005800-68042400	Weak transcription	NHEK	skin
9	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
10	chr14:68009000-68022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:68009000-68024800	Weak transcription	Gastric	stomach
12	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:68009200-68020200	Weak transcription	Stomach Mucosa	stomach
15	chr14:68009200-68023800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:68009200-68024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:68009200-68024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:68010200-68036400	Weak transcription	Small Intestine	intestine
21	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
23	chr14:68012000-68029200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:68012000-68033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:68012400-68025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:68012400-68026200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:68012400-68028200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:68012400-68028600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:68012800-68026200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:68013200-68023600	Strong transcription	Fetal Intestine Small	intestine
32	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
33	chr14:68014000-68024600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:68014400-68020400	Weak transcription	Pancreas	Pancrea
35	chr14:68014400-68024800	Weak transcription	Esophagus	oesophagus
36	chr14:68014400-68036200	Weak transcription	Colonic Mucosa	Colon
37	chr14:68014600-68021000	Weak transcription	Fetal Brain Female	brain
38	chr14:68014800-68020200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:68014800-68022600	Weak transcription	Placenta	Placenta
40	chr14:68016000-68033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:68016800-68025400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:68016800-68028800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:68017000-68020400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:68017200-68023400	Weak transcription	HMEC	breast
45	chr14:68017800-68019800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:68017800-68023000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:68018600-68042400	Weak transcription	Right Ventricle	heart
48	chr14:68019000-68020400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:68019000-68020400	Weak transcription	Psoas Muscle	Psoas
50	chr14:68019000-68020400	Weak transcription	Rectal Mucosa Donor 29	rectum

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