Variant report

Variant	rs56222547
Chromosome Location	chr14:31464121-31464122
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31461174..31464156-chr14:31494227..31496386,3	MCF-7	breast:
2	chr14:31462254..31468952-chr14:31492285..31496312,7	MCF-7	breast:
3	chr14:31461833..31464355-chr14:31467976..31470646,2	MCF-7	breast:
4	chr14:31458647..31460710-chr14:31463564..31465601,2	K562	blood:
5	chr14:31463269..31470932-chr14:31491620..31497354,8	K562	blood:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17097507	1.00[AMR][1000 genomes]
rs17097526	1.00[AMR][1000 genomes]
rs17097552	1.00[AMR][1000 genomes]
rs56229109	1.00[AMR][1000 genomes]
rs56306509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58903855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59093742	1.00[AMR][1000 genomes]
rs7142330	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74040906	1.00[AMR][1000 genomes]
rs74040940	1.00[AMR][1000 genomes]
rs74040941	1.00[AMR][1000 genomes]
rs74041073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042105	1.00[AFR][1000 genomes]
rs74042109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042114	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9671818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:31442400-31494400	Weak transcription	Gastric	stomach
5	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:31451200-31464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:31455200-31466400	Weak transcription	Primary T cells from cord blood	blood
9	chr14:31456000-31464400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:31456000-31465200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:31457200-31465000	Weak transcription	Pancreas	Pancrea
12	chr14:31457200-31467600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:31457400-31467200	Weak transcription	Dnd41	blood
14	chr14:31457600-31464200	Weak transcription	Fetal Lung	lung
15	chr14:31457600-31467200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:31458600-31464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:31458600-31465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:31458600-31465000	Weak transcription	Fetal Stomach	stomach
19	chr14:31458600-31465200	Weak transcription	K562	blood
20	chr14:31458600-31467200	Weak transcription	Lung	lung
21	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:31460200-31464200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:31460400-31465000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:31460400-31465000	Weak transcription	Ovary	ovary
25	chr14:31460600-31464400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:31460800-31467200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:31461000-31464200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:31461000-31464200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:31461000-31467600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:31461200-31464800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:31461200-31466600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:31461200-31467400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:31461200-31492400	Weak transcription	Fetal Kidney	kidney
34	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
35	chr14:31461400-31467000	Weak transcription	Primary B cells from cord blood	blood
36	chr14:31461400-31467000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:31461400-31487400	Weak transcription	Right Ventricle	heart
38	chr14:31461600-31465000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:31462000-31466600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:31462200-31465000	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:31462400-31465000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:31462400-31465000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:31462400-31465000	Weak transcription	Left Ventricle	heart
44	chr14:31462400-31465000	Weak transcription	Right Atrium	heart
45	chr14:31462400-31467000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr14:31462400-31467200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:31462600-31464200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:31462600-31464200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:31462600-31464400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:31462600-31464600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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