Variant report

Variant	rs74085281
Chromosome Location	chr14:104198440-104198441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104190417..104195099-chr14:104198034..104202895,6	MCF-7	breast:
2	chr14:104196055..104198700-chr14:104202542..104204837,2	K562	blood:
3	chr14:104195134..104197407-chr14:104197892..104201943,5	MCF-7	breast:
4	chr14:104193655..104196381-chr14:104198015..104200284,3	K562	blood:
5	chr14:104178942..104181016-chr14:104198223..104200771,2	K562	blood:

Variant related genes	Relation type
ENSG00000269963	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000253096	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7146691	1.00[EUR][1000 genomes]
rs74085282	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
11	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104183400-104200600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:104184000-104201200	Weak transcription	HUVEC	blood vessel
3	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
6	chr14:104189400-104203200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:104190600-104198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:104190600-104199600	Strong transcription	Dnd41	blood
9	chr14:104190600-104202000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:104190800-104204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:104191000-104202000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:104191000-104202200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:104191000-104203200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:104191200-104209200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:104191400-104201400	Strong transcription	Fetal Stomach	stomach
16	chr14:104191400-104201600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:104191800-104201600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:104192000-104201000	Strong transcription	NHLF	lung
20	chr14:104192200-104199200	Strong transcription	NHEK	skin
21	chr14:104192200-104200400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:104192200-104201000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:104192200-104201600	Strong transcription	Placenta	Placenta
24	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:104193200-104200000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:104193400-104201400	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:104194000-104198800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:104194000-104199200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:104194000-104200200	Strong transcription	Aorta	Aorta
30	chr14:104194000-104200400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:104194000-104201000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:104194000-104201600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:104194000-104209200	Strong transcription	Fetal Intestine Large	intestine
34	chr14:104194200-104201600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:104194200-104205600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:104194200-104211400	Strong transcription	Colonic Mucosa	Colon
37	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr14:104194400-104208800	Strong transcription	Primary T cells from cord blood	blood
39	chr14:104194600-104206800	Strong transcription	Brain Germinal Matrix	brain
40	chr14:104194800-104201000	Strong transcription	HepG2	liver
41	chr14:104194800-104201400	Strong transcription	Lung	lung
42	chr14:104194800-104209200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr14:104194800-104209200	Strong transcription	Fetal Intestine Small	intestine
44	chr14:104194800-104212000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr14:104195000-104200200	Strong transcription	A549	lung
46	chr14:104195000-104201000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr14:104195200-104200200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:104195200-104200600	Strong transcription	Brain Cingulate Gyrus	brain
49	chr14:104195800-104199200	Weak transcription	HSMMtube	muscle
50	chr14:104195800-104215200	Weak transcription	HSMM	muscle

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