Variant report

Variant	rs1956523
Chromosome Location	chr14:68804404-68804405
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68802480..68804741-chr14:68806549..68808439,2	MCF-7	breast:
2	chr14:68735494..68738369-chr14:68803513..68805085,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10083393	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10131654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135678	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10136039	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10144669	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10483807	0.83[CHB][hapmap]
rs11158730	0.83[CHB][hapmap]
rs11621881	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880109	0.83[CHB][hapmap]
rs1956525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1956526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2064914	0.97[EUR][1000 genomes]
rs2145422	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs2145423	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs3784106	1.00[CEU][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3784110	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs3784111	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4410007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899238	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902566	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62635808	0.85[ASN][1000 genomes]
rs7144422	0.86[ASN][1000 genomes]
rs7146110	0.80[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7147852	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7148322	0.95[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7148412	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7149396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7151629	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7493547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013078	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013968	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8022860	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs911254	0.83[CHB][hapmap]
rs911255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911258	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs927220	0.95[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9323506	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9989152	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:68788200-68807000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:68799400-68806400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:68799600-68806400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:68799800-68808000	Weak transcription	Fetal Lung	lung
8	chr14:68800000-68807400	Weak transcription	Fetal Stomach	stomach
9	chr14:68800000-68808200	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:68800000-68808400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:68803200-68805200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:68803400-68804600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:68803400-68805000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:68803400-68805000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:68803400-68807000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:68803600-68804600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr14:68803800-68804800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:68803800-68805000	Enhancers	Primary B cells from peripheral blood	blood
19	chr14:68803800-68805200	Enhancers	Primary hematopoietic stem cells	blood
20	chr14:68804000-68810400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:68804000-68813400	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:68804200-68805200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:68804400-68805800	Enhancers	GM12878-XiMat	blood
24	chr14:68804400-68806400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:68804400-68806800	Weak transcription	Primary B cells from cord blood	blood
26	chr14:68804400-68807400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:68804400-68808200	Weak transcription	Primary T cells from cord blood	blood
28	chr14:68804400-68812800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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