Variant report

Variant	rs230700
Chromosome Location	chr14:65308862-65308863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65293736..65296089-chr14:65308632..65311499,2	K562	blood:
2	chr14:65307162..65309690-chr14:65332529..65335458,2	K562	blood:
3	chr14:65307862..65310367-chr14:65313110..65315645,2	MCF-7	breast:
4	chr14:65308032..65309548-chr14:65310473..65312252,2	K562	blood:
5	chr14:65307919..65310275-chr14:65380643..65382616,2	K562	blood:
6	chr14:65302483..65304714-chr14:65308064..65309843,2	K562	blood:
7	chr14:65306551..65309829-chr14:65344865..65347134,3	K562	blood:
8	chr14:65306058..65308869-chr14:65317790..65319964,2	MCF-7	breast:
9	chr14:65290998..65293836-chr14:65307900..65310163,2	K562	blood:
10	chr14:65296488..65300322-chr14:65306337..65310294,4	K562	blood:
11	chr14:65308370..65310775-chr14:65344440..65346663,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125954	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10121	0.82[CHB][hapmap]
rs17102190	1.00[CHB][hapmap]
rs17102258	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17180385	0.85[CEU][hapmap]
rs17767870	1.00[ASN][1000 genomes]
rs1957416	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs2181127	0.90[ASN][1000 genomes]
rs229669	0.85[CEU][hapmap]
rs230697	0.85[YRI][hapmap]
rs230698	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230715	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs230717	0.86[YRI][hapmap]
rs230718	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs230723	0.87[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2649194	0.86[YRI][hapmap]
rs372933	0.95[ASN][1000 genomes]
rs376295	0.86[YRI][hapmap]
rs380741	1.00[ASN][1000 genomes]
rs66511472	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs66883381	0.90[ASN][1000 genomes]
rs7144515	0.82[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[ASN][1000 genomes]
rs72625636	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625637	1.00[ASN][1000 genomes]
rs72625638	0.95[ASN][1000 genomes]
rs72625640	0.95[ASN][1000 genomes]
rs72625641	0.90[ASN][1000 genomes]
rs72625642	0.90[ASN][1000 genomes]
rs72625643	0.90[ASN][1000 genomes]
rs72625644	0.90[ASN][1000 genomes]
rs72625645	0.90[ASN][1000 genomes]
rs72625646	0.90[ASN][1000 genomes]
rs72625647	0.90[ASN][1000 genomes]
rs72625648	0.90[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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65298400-65309800	Weak transcription	Right Ventricle	heart
2	chr14:65307000-65309600	Enhancers	Fetal Muscle Leg	muscle
3	chr14:65307000-65314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:65307200-65309400	Flanking Active TSS	K562	blood
5	chr14:65307600-65309000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:65307600-65309000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:65307600-65309400	Weak transcription	Left Ventricle	heart
8	chr14:65307600-65310000	Weak transcription	Right Atrium	heart
9	chr14:65307800-65309000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:65308000-65309000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:65308000-65309000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:65308000-65309000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:65308000-65310000	Weak transcription	Psoas Muscle	Psoas
14	chr14:65308200-65309000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:65308200-65309000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:65308200-65311000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:65308400-65309000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr14:65308400-65311000	Enhancers	Fetal Heart	heart
19	chr14:65308600-65309200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:65308600-65309600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr14:65308600-65310800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:65308800-65309000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:65308800-65309200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:65308800-65311200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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