Variant report

Variant	rs4140798
Chromosome Location	chr14:72162901-72162902
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	chr14:72153946..72156828-chr14:72162429..72163999,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10146552	0.83[AFR][1000 genomes]
rs10147863	0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11846689	0.85[ASN][1000 genomes]
rs17096112	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1859551	0.87[ASW][hapmap];0.80[LWK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs3784060	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4464023	0.90[YRI][hapmap]
rs61989427	0.84[ASN][1000 genomes]
rs7141155	0.86[YRI][hapmap]
rs7145435	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs7149924	0.83[ASN][1000 genomes]
rs7150965	0.82[CHB][hapmap]
rs7401916	0.82[AFR][1000 genomes]
rs9972151	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
4	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
6	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:72147800-72185000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr14:72148200-72170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:72148200-72175800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:72148600-72165000	Weak transcription	Fetal Brain Male	brain
12	chr14:72149000-72177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:72149000-72186200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:72149800-72176000	Weak transcription	Small Intestine	intestine
15	chr14:72151400-72169600	Weak transcription	Fetal Brain Female	brain
16	chr14:72151600-72171800	Weak transcription	Left Ventricle	heart
17	chr14:72151600-72188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:72151800-72171600	Weak transcription	Colonic Mucosa	Colon
19	chr14:72152200-72165600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:72152400-72168800	Weak transcription	Esophagus	oesophagus
21	chr14:72152400-72171600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:72152800-72165600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:72153000-72165800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:72153000-72175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:72153200-72175800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:72153600-72168800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:72153800-72165800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:72154400-72168400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:72154400-72169400	Weak transcription	Fetal Heart	heart
30	chr14:72155200-72164800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:72155600-72167000	Weak transcription	Placenta	Placenta
32	chr14:72156800-72176000	Weak transcription	HepG2	liver
33	chr14:72157000-72166600	Strong transcription	Primary B cells from cord blood	blood
34	chr14:72157000-72175800	Weak transcription	Fetal Intestine Large	intestine
35	chr14:72158000-72165000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:72158000-72165200	Weak transcription	Fetal Kidney	kidney
37	chr14:72158000-72165600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:72158800-72164200	Enhancers	Brain Hippocampus Middle	brain
39	chr14:72159000-72164200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:72159000-72164800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:72159400-72165400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:72159600-72165400	Weak transcription	Adipose Nuclei	Adipose
43	chr14:72159600-72165400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:72159600-72165600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:72159600-72172000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:72159800-72163600	Weak transcription	Gastric	stomach
47	chr14:72159800-72165600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:72159800-72165600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:72159800-72165600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:72159800-72165600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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