Variant report

Variant	rs61988249
Chromosome Location	chr14:68027033-68027034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3809389	1.00[AFR][1000 genomes]
rs45451797	1.00[AFR][1000 genomes]
rs749269	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
3	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
4	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
5	chr14:68005800-68042400	Weak transcription	NHEK	skin
6	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
7	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:68010200-68036400	Weak transcription	Small Intestine	intestine
12	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
14	chr14:68012000-68029200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:68012000-68033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:68012400-68028200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:68012400-68028600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
20	chr14:68014400-68036200	Weak transcription	Colonic Mucosa	Colon
21	chr14:68016000-68033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:68016800-68028800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:68018600-68042400	Weak transcription	Right Ventricle	heart
24	chr14:68020200-68027400	Genic enhancers	Brain Substantia Nigra	brain
25	chr14:68020800-68033600	Weak transcription	Stomach Mucosa	stomach
26	chr14:68021000-68030200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr14:68021400-68032200	Strong transcription	Brain Anterior Caudate	brain
28	chr14:68022000-68029800	Strong transcription	Fetal Stomach	stomach
29	chr14:68022800-68053000	Weak transcription	Lung	lung
30	chr14:68024000-68030200	Strong transcription	Fetal Brain Female	brain
31	chr14:68024200-68038000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:68024400-68033000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:68024600-68028800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:68024600-68030200	Strong transcription	Fetal Intestine Large	intestine
35	chr14:68024600-68037000	Strong transcription	Fetal Intestine Small	intestine
36	chr14:68024600-68039400	Weak transcription	HepG2	liver
37	chr14:68025000-68030400	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr14:68025000-68033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:68025200-68027200	Weak transcription	Brain Angular Gyrus	brain
40	chr14:68025200-68028600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:68025200-68028800	Weak transcription	Esophagus	oesophagus
42	chr14:68025200-68032800	Weak transcription	Psoas Muscle	Psoas
43	chr14:68025400-68030600	Strong transcription	Brain Hippocampus Middle	brain
44	chr14:68025600-68027200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:68025600-68029200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:68025800-68028600	Weak transcription	Pancreas	Pancrea
47	chr14:68025800-68028800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:68025800-68028800	Weak transcription	Gastric	stomach
49	chr14:68025800-68029000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:68025800-68029800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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