Variant report

Variant	rs8012105
Chromosome Location	chr14:55647798-55647799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55645788..55648762-chr14:55649731..55651963,3	K562	blood:
2	chr14:55641769..55647288-chr14:55647379..55651271,6	K562	blood:
3	chr14:55647150..55649562-chr14:55656835..55658830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126787	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10133915	0.86[ASN][1000 genomes]
rs10134983	0.89[EUR][1000 genomes]
rs10140881	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141323	0.83[ASN][1000 genomes]
rs10144326	0.89[EUR][1000 genomes]
rs10498475	0.87[EUR][1000 genomes]
rs11125	0.87[EUR][1000 genomes]
rs11844443	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845848	0.89[EUR][1000 genomes]
rs13379158	0.89[EUR][1000 genomes]
rs17671923	0.87[EUR][1000 genomes]
rs17672376	0.80[EUR][1000 genomes]
rs17740413	0.80[EUR][1000 genomes]
rs2094103	0.89[EUR][1000 genomes]
rs2274271	0.89[EUR][1000 genomes]
rs2296490	0.91[ASN][1000 genomes]
rs2340932	0.83[ASN][1000 genomes]
rs2340935	0.86[ASN][1000 genomes]
rs28379289	0.81[ASN][1000 genomes]
rs28405981	0.83[ASN][1000 genomes]
rs28547246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28676392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879891	0.86[ASN][1000 genomes]
rs58737648	0.81[EUR][1000 genomes]
rs6573008	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650507	0.98[ASN][1000 genomes]
rs7151339	0.91[ASN][1000 genomes]
rs7157520	0.80[ASN][1000 genomes]
rs7157768	0.81[ASN][1000 genomes]
rs7159490	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271796	0.98[ASN][1000 genomes]
rs73273623	0.98[ASN][1000 genomes]
rs8003961	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009244	0.82[EUR][1000 genomes]
rs8009660	0.86[ASN][1000 genomes]
rs8010993	0.81[EUR][1000 genomes]
rs8017256	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021306	0.86[AFR][1000 genomes];0.91[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	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55598600-55656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55605200-55656000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:55605400-55657000	Weak transcription	Fetal Kidney	kidney
4	chr14:55606600-55656000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55607000-55656000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:55607200-55652200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:55607600-55651800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr14:55607600-55655200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:55610600-55651600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55610600-55655400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:55610600-55655600	Strong transcription	Dnd41	blood
12	chr14:55610800-55656000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:55611000-55656000	Weak transcription	Fetal Heart	heart
14	chr14:55611600-55656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:55613400-55657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:55622600-55649000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:55623600-55657000	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:55629000-55650400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:55629200-55655600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:55629400-55650600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:55629400-55652000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr14:55630200-55656600	Weak transcription	Fetal Brain Female	brain
23	chr14:55631200-55649400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:55631200-55650400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:55632400-55656200	Weak transcription	HSMM	muscle
26	chr14:55634200-55655400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:55634400-55656200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:55637200-55655600	Strong transcription	Fetal Thymus	thymus
29	chr14:55637800-55649600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:55638200-55648800	Weak transcription	Fetal Lung	lung
31	chr14:55638200-55656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:55638600-55657200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:55639800-55654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:55641600-55648800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:55641600-55649000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:55642600-55647800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:55642600-55649400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:55643600-55647800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:55643800-55652000	Strong transcription	A549	lung
40	chr14:55644400-55648400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:55644800-55648400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:55644800-55652000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:55645000-55647800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr14:55645000-55647800	Strong transcription	HMEC	breast
45	chr14:55645200-55651800	Strong transcription	Hela-S3	cervix
46	chr14:55645800-55648400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:55645800-55649000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:55645800-55649200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:55645800-55656800	Weak transcription	Fetal Intestine Large	intestine
50	chr14:55645800-55657400	Weak transcription	Fetal Intestine Small	intestine

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