Variant report

Variant	rs17102244
Chromosome Location	chr14:65328575-65328576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65326776..65328848-chr14:65344777..65346303,2	K562	blood:
2	chr14:65328178..65330456-chr14:65344505..65346586,2	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17102223	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951496	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2182034	1.00[AMR][1000 genomes]
rs55796139	1.00[AMR][1000 genomes]
rs56327757	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726243	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726248	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726257	1.00[AMR][1000 genomes]
rs72726258	1.00[AMR][1000 genomes]
rs72726262	1.00[AMR][1000 genomes]
rs72726263	1.00[AMR][1000 genomes]
rs72726265	1.00[AMR][1000 genomes]
rs72726266	1.00[AMR][1000 genomes]
rs72726269	1.00[AMR][1000 genomes]
rs72726271	1.00[AMR][1000 genomes]
rs72728205	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65319400-65332600	Weak transcription	Right Atrium	heart
2	chr14:65323000-65330000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:65325400-65328600	Weak transcription	Left Ventricle	heart
4	chr14:65325600-65331800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:65325600-65332200	Weak transcription	Right Ventricle	heart
6	chr14:65325800-65332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:65327200-65328800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:65327200-65332000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:65327200-65332200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:65327400-65329600	Weak transcription	K562	blood
11	chr14:65328000-65329000	Enhancers	Psoas Muscle	Psoas
12	chr14:65328000-65329200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:65328200-65328600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:65328200-65328800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:65328200-65328800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:65328200-65329000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:65328400-65328800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr14:65328400-65328800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:65328400-65328800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:65328400-65328800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:65328400-65328800	Enhancers	Brain Anterior Caudate	brain
22	chr14:65328400-65328800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr14:65328400-65329000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:65328400-65329000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:65328400-65329000	Enhancers	Fetal Heart	heart
26	chr14:65328400-65329200	Enhancers	Fetal Muscle Leg	muscle

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