Variant report

Variant	rs1951955
Chromosome Location	chr14:56601488-56601489
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	chr14:56584201..56586248-chr14:56600071..56602389,2	K562	blood:
2	chr14:56583354..56586083-chr14:56598668..56601939,3	K562	blood:

Variant related genes	Relation type
ENSG00000139946	Chromatin interaction

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

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

rs_ID	r²[population]
rs10144612	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs10483656	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs1427556	0.90[CEU][hapmap]
rs17688725	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17688801	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17689278	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17761563	0.89[YRI][hapmap]
rs17762499	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17762733	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17832675	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2035283	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2343376	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28712711	0.80[EUR][1000 genomes]
rs2880615	0.89[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3850298	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3912203	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4127813	1.00[CEU][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8020301	0.90[CEU][hapmap]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56592000-56601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:56593200-56612800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:56595600-56607000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:56596600-56603600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:56596600-56615000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:56596800-56603600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:56596800-56604000	Weak transcription	Right Ventricle	heart
8	chr14:56596800-56604200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:56597000-56603400	Weak transcription	Spleen	Spleen
10	chr14:56597000-56611800	Weak transcription	Lung	lung
11	chr14:56597200-56604000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:56597200-56605600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:56597200-56607200	Enhancers	Dnd41	blood
14	chr14:56598200-56602000	Enhancers	Fetal Brain Male	brain
15	chr14:56598200-56606600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:56598400-56604200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:56598800-56601800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:56599000-56604600	Weak transcription	Brain Anterior Caudate	brain
19	chr14:56599200-56602000	Weak transcription	Fetal Intestine Small	intestine
20	chr14:56599200-56603400	Weak transcription	Primary B cells from cord blood	blood
21	chr14:56599200-56604000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:56599200-56606600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:56599400-56601800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:56599400-56601800	Weak transcription	Psoas Muscle	Psoas
25	chr14:56599400-56601800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:56599400-56603000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:56599400-56604200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:56599400-56604200	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:56599400-56614800	Weak transcription	Brain Substantia Nigra	brain
30	chr14:56599400-56615000	Weak transcription	Left Ventricle	heart
31	chr14:56599600-56601800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:56599600-56601800	Weak transcription	Fetal Kidney	kidney
33	chr14:56599600-56602000	Weak transcription	NHDF-Ad	bronchial
34	chr14:56599600-56604000	Weak transcription	Adipose Nuclei	Adipose
35	chr14:56599600-56605600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:56599800-56602600	Enhancers	Brain Germinal Matrix	brain
37	chr14:56600000-56607800	Enhancers	Primary hematopoietic stem cells	blood
38	chr14:56600200-56603400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:56600400-56603400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:56600400-56604200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:56600400-56605400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:56600400-56606800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:56600600-56601800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:56600600-56601800	Weak transcription	Ovary	ovary
45	chr14:56600600-56601800	Weak transcription	Stomach Mucosa	stomach
46	chr14:56600600-56602400	Weak transcription	Small Intestine	intestine
47	chr14:56600600-56603400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:56600600-56603400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:56600600-56603400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:56600600-56603400	Weak transcription	Fetal Brain Female	brain

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