Variant report

Variant	rs61994162
Chromosome Location	chr14:31878593-31878594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31878310..31886086-chr14:31887532..31891135,8	K562	blood:

Variant related genes	Relation type
ENSG00000129493	Chromatin interaction
ENSG00000250365	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10137265	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10872852	1.00[AMR][1000 genomes]
rs12878225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1958026	1.00[ASN][1000 genomes]
rs2378862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2378866	0.93[AFR][1000 genomes]
rs4981099	1.00[ASN][1000 genomes]
rs4981846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5018104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6571421	0.83[AFR][1000 genomes]
rs6571424	1.00[ASN][1000 genomes]
rs7146522	1.00[AMR][1000 genomes]
rs7151305	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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
3	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
5	chr14:31847000-31878600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:31853200-31880600	Weak transcription	HSMMtube	muscle
8	chr14:31854600-31880600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:31855000-31888400	Weak transcription	Primary T cells from cord blood	blood
10	chr14:31859200-31880600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:31861600-31888400	Weak transcription	Psoas Muscle	Psoas
12	chr14:31863000-31879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:31863000-31889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:31863400-31883200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:31863400-31884400	Weak transcription	Brain Anterior Caudate	brain
16	chr14:31864600-31888400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:31865600-31883200	Weak transcription	NHEK	skin
18	chr14:31865600-31884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:31865800-31879600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:31865800-31888600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:31866200-31879600	Weak transcription	Fetal Lung	lung
22	chr14:31867000-31886800	Weak transcription	Esophagus	oesophagus
23	chr14:31867600-31880600	Weak transcription	Colonic Mucosa	Colon
24	chr14:31867800-31880400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:31868000-31883800	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:31868200-31887400	Weak transcription	Fetal Intestine Large	intestine
27	chr14:31868400-31883800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:31869000-31878600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:31869800-31879200	Weak transcription	GM12878-XiMat	blood
30	chr14:31869800-31880600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:31870600-31883200	Weak transcription	Brain Angular Gyrus	brain
32	chr14:31870600-31888200	Weak transcription	Fetal Stomach	stomach
33	chr14:31870800-31878800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:31870800-31880600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:31870800-31888800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:31871000-31880600	Weak transcription	Brain Substantia Nigra	brain
37	chr14:31871000-31880600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:31871000-31880600	Weak transcription	Osteobl	bone
39	chr14:31871000-31883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:31871000-31883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:31871000-31883000	Weak transcription	HUVEC	blood vessel
42	chr14:31871000-31883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:31871000-31888400	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:31871000-31888800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:31871200-31879600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:31871200-31880800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:31871200-31883400	Weak transcription	NHDF-Ad	bronchial
48	chr14:31871200-31888800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:31871600-31878600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:31871600-31879600	Weak transcription	A549	lung

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