Variant report

Variant	rs8010233
Chromosome Location	chr14:68835038-68835039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68834296..68836299-chr14:69281257..69283573,2	MCF-7	breast:
2	chr14:68833173..68835923-chr14:68849243..68851394,2	MCF-7	breast:
3	chr14:68830049..68833032-chr14:68833353..68836919,3	MCF-7	breast:
4	chr14:68833551..68835141-chr14:68843707..68845855,2	K562	blood:
5	chr14:68833824..68836435-chr14:69255771..69258211,2	MCF-7	breast:
6	chr14:68834081..68836635-chr14:68840807..68842526,2	MCF-7	breast:
7	chr14:68834932..68837443-chr14:69252432..69254129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10134240	1.00[CHB][hapmap]
rs10483809	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1274639	1.00[CHB][hapmap]
rs1314911	1.00[CHB][hapmap]
rs1314916	1.00[CHB][hapmap]
rs17105494	0.81[CEU][hapmap]
rs17828548	1.00[CHB][hapmap];0.83[TSI][hapmap]
rs1958115	1.00[CHB][hapmap]
rs35896204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56086327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56758822	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838746	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729138	1.00[CHB][hapmap]
rs74059304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059308	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059309	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68826200-68835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:68829600-68835400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:68829600-68837400	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:68829600-68837400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:68829800-68837400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:68830000-68835200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:68830200-68836200	Enhancers	Fetal Lung	lung
8	chr14:68830600-68836800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:68830800-68835200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:68831000-68835800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:68831600-68836600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:68831800-68838400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:68831800-68841600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:68831800-68844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:68832000-68835200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:68832000-68835600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:68832000-68836200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:68832000-68836600	Weak transcription	HSMMtube	muscle
19	chr14:68832000-68843200	Weak transcription	Placenta	Placenta
20	chr14:68832000-68843800	Weak transcription	Ovary	ovary
21	chr14:68832000-68844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:68832000-68851600	Weak transcription	Lung	lung
23	chr14:68832200-68836000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:68832200-68836400	Weak transcription	Stomach Mucosa	stomach
25	chr14:68832200-68836600	Weak transcription	Fetal Intestine Large	intestine
26	chr14:68832200-68836600	Weak transcription	Fetal Intestine Small	intestine
27	chr14:68832200-68837000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:68832200-68838600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:68832200-68841600	Weak transcription	Pancreas	Pancrea
30	chr14:68832200-68844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:68832200-68844200	Weak transcription	Brain Germinal Matrix	brain
32	chr14:68832400-68835600	Weak transcription	NHDF-Ad	bronchial
33	chr14:68832600-68836400	Weak transcription	HUVEC	blood vessel
34	chr14:68832800-68835600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:68833000-68845200	Enhancers	Primary B cells from peripheral blood	blood
36	chr14:68833200-68836200	Enhancers	Primary B cells from cord blood	blood
37	chr14:68833200-68837000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:68833400-68838600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:68833600-68835200	Weak transcription	Aorta	Aorta
40	chr14:68833600-68835200	Enhancers	Brain Anterior Caudate	brain
41	chr14:68833600-68836800	Weak transcription	HepG2	liver
42	chr14:68833600-68837000	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:68833600-68837000	Weak transcription	Esophagus	oesophagus
44	chr14:68833600-68842200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:68833800-68835200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:68833800-68835200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr14:68833800-68836800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:68833800-68838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:68833800-68838800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:68834000-68835200	Enhancers	GM12878-XiMat	blood

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