Variant report

Variant	rs56862737
Chromosome Location	chr14:31460671-31460672
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31458647..31460710-chr14:31463564..31465601,2	K562	blood:
2	chr14:31458519..31461343-chr14:31465487..31467458,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483360	0.82[EUR][1000 genomes]
rs1474802	0.82[EUR][1000 genomes]
rs17097503	0.84[AFR][1000 genomes]
rs17097524	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17097601	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45536734	0.82[EUR][1000 genomes]
rs45600940	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4981084	0.82[EUR][1000 genomes]
rs55687047	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55956948	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56240895	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59048919	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59589591	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61508230	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7140646	0.82[EUR][1000 genomes]
rs7156429	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs8021378	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9707664	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3411274	chr14:31442250-31460681	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
3	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:31442400-31461400	Weak transcription	Left Ventricle	heart
6	chr14:31442400-31494400	Weak transcription	Gastric	stomach
7	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:31443600-31462200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:31444200-31464000	Weak transcription	Brain Anterior Caudate	brain
11	chr14:31446600-31461600	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:31449400-31460800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:31451200-31464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:31454800-31462800	Weak transcription	Fetal Intestine Small	intestine
15	chr14:31455200-31466400	Weak transcription	Primary T cells from cord blood	blood
16	chr14:31455600-31460800	Weak transcription	Small Intestine	intestine
17	chr14:31456000-31464400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:31456000-31465200	Weak transcription	Brain Angular Gyrus	brain
19	chr14:31457000-31461000	Genic enhancers	HepG2	liver
20	chr14:31457000-31461200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:31457200-31465000	Weak transcription	Pancreas	Pancrea
22	chr14:31457200-31467600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:31457400-31467200	Weak transcription	Dnd41	blood
24	chr14:31457600-31464200	Weak transcription	Fetal Lung	lung
25	chr14:31457600-31467200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:31458200-31463800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:31458200-31463800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:31458400-31463800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:31458400-31463800	Weak transcription	Hela-S3	cervix
30	chr14:31458600-31460800	Weak transcription	Psoas Muscle	Psoas
31	chr14:31458600-31463200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:31458600-31463800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:31458600-31463800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:31458600-31463800	Weak transcription	NH-A	brain
35	chr14:31458600-31463800	Weak transcription	NHDF-Ad	bronchial
36	chr14:31458600-31463800	Weak transcription	NHLF	lung
37	chr14:31458600-31463800	Weak transcription	Osteobl	bone
38	chr14:31458600-31464000	Weak transcription	HMEC	breast
39	chr14:31458600-31464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:31458600-31465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:31458600-31465000	Weak transcription	Fetal Stomach	stomach
42	chr14:31458600-31465200	Weak transcription	K562	blood
43	chr14:31458600-31467200	Weak transcription	Lung	lung
44	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:31458800-31462000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:31458800-31463800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:31459400-31463800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:31459600-31461000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr14:31459800-31461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:31459800-31461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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