Variant report

Variant	rs2234919
Chromosome Location	chr14:81422178-81422179
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81421283..81423197-chr14:81423259..81426025,2	K562	blood:
2	chr14:81420793..81423189-chr14:81424553..81427836,4	MCF-7	breast:
3	chr14:81421307..81423560-chr14:81685821..81687772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs327450	0.83[ASN][1000 genomes]
rs45585237	1.00[ASN][1000 genomes]
rs8009058	0.83[ASN][1000 genomes]
rs8022139	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81421000-81423400	Active TSS	Fetal Thymus	thymus
2	chr14:81421000-81426400	Active TSS	Thymus	Thymus
3	chr14:81421200-81422200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:81421200-81422200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
5	chr14:81421200-81422200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:81421200-81422200	Active TSS	Brain Cingulate Gyrus	brain
7	chr14:81421200-81422200	Active TSS	Brain Hippocampus Middle	brain
8	chr14:81421200-81422200	Active TSS	Dnd41	blood
9	chr14:81421200-81422200	Active TSS	HSMM	muscle
10	chr14:81421200-81422400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:81421200-81422400	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr14:81421200-81422400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr14:81421200-81422400	Active TSS	Rectal Smooth Muscle	rectum
14	chr14:81421400-81422200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:81421400-81422200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:81421400-81422200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:81421400-81422200	Bivalent Enhancer	Fetal Lung	lung
18	chr14:81421400-81422200	Enhancers	Spleen	Spleen
19	chr14:81421400-81422400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr14:81421400-81422400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr14:81421400-81422400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr14:81421400-81422600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:81421400-81422800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:81421600-81422200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:81421600-81422200	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr14:81421600-81422200	Enhancers	Esophagus	oesophagus
27	chr14:81421600-81422200	Enhancers	Gastric	stomach
28	chr14:81421600-81422200	Enhancers	Lung	lung
29	chr14:81421600-81422200	Enhancers	Pancreas	Pancrea
30	chr14:81421600-81422200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
31	chr14:81421600-81422200	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr14:81421600-81422200	Bivalent Enhancer	HUVEC	blood vessel
33	chr14:81421600-81422400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:81421600-81422400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:81421600-81422400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr14:81421600-81422400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr14:81421600-81422400	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr14:81421600-81422400	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr14:81421800-81422200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:81421800-81422200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:81421800-81422200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:81421800-81422200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:81421800-81422200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr14:81421800-81422200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:81421800-81422200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr14:81421800-81422200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:81421800-81422200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:81421800-81422200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:81421800-81422200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:81421800-81422200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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