Variant report

Variant	rs1885038
Chromosome Location	chr14:67978526-67978527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67928363..67930468-chr14:67978414..67980438,2	MCF-7	breast:
2	chr14:67976992..67979200-chr14:67989506..67991130,2	MCF-7	breast:
3	chr14:67973423..67975623-chr14:67977106..67978835,2	MCF-7	breast:
4	chr14:67976445..67980059-chr14:67998803..68001828,3	K562	blood:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10134226	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144299	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10873203	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11158672	0.80[AMR][1000 genomes]
rs11850406	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1885040	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2004555	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28373080	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2874093	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
3	chr14:67961400-67979400	Weak transcription	Primary B cells from cord blood	blood
4	chr14:67961400-67979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:67961600-67979400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:67962800-67979200	Weak transcription	Pancreas	Pancrea
7	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:67965000-67979400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
12	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:67970200-67980200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:67970200-67980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:67970400-67980200	Weak transcription	Placenta	Placenta
16	chr14:67971000-67980600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:67975800-67978800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:67975800-67979000	Weak transcription	Fetal Intestine Small	intestine
19	chr14:67975800-67979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:67975800-67981000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:67976000-67979400	Weak transcription	GM12878-XiMat	blood
22	chr14:67976400-67979200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:67976400-67979200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:67976400-67980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:67976600-67980600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr14:67976800-67978600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:67976800-67980400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:67977000-67978600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:67977200-67979400	Weak transcription	Spleen	Spleen
30	chr14:67977600-67980400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:67977600-67980600	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:67977600-67980800	Weak transcription	NHEK	skin
33	chr14:67977800-67980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:67977800-67980400	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:67977800-67980600	Weak transcription	Brain Anterior Caudate	brain
36	chr14:67977800-67980800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:67977800-67981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:67977800-67981000	Weak transcription	HMEC	breast
39	chr14:67978000-67978600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:67978000-67979400	Weak transcription	Brain Angular Gyrus	brain
41	chr14:67978000-67980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:67978000-67981000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:67978200-67980200	Weak transcription	Brain Substantia Nigra	brain
44	chr14:67978200-67980800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:67978200-67981200	Weak transcription	Hela-S3	cervix

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