Variant report

Variant	rs73275595
Chromosome Location	chr14:69510827-69510828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69504422..69507358-chr14:69508879..69511159,3	K562	blood:
2	chr14:69443082..69446531-chr14:69508749..69512052,3	MCF-7	breast:
3	chr14:69504745..69507053-chr14:69509221..69511186,2	K562	blood:
4	chr14:69510523..69515043-chr14:69515218..69517910,6	MCF-7	breast:
5	chr14:69509516..69511867-chr14:69516785..69518718,2	K562	blood:
6	chr14:69509691..69512207-chr14:69526446..69528305,2	MCF-7	breast:
7	chr14:69504480..69506632-chr14:69509556..69511632,2	MCF-7	breast:
8	chr14:69510349..69511857-chr14:69516882..69518965,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57166953	1.00[AMR][1000 genomes]
rs60135694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61491094	1.00[AMR][1000 genomes]
rs73277024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278991	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69506000-69511200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:69506600-69511000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:69508400-69511200	Enhancers	Duodenum Mucosa	Duodenum
4	chr14:69508600-69511600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
5	chr14:69508600-69512200	Enhancers	HSMMtube	muscle
6	chr14:69508600-69513200	Enhancers	Fetal Intestine Small	intestine
7	chr14:69508600-69513400	Enhancers	Fetal Intestine Large	intestine
8	chr14:69508800-69513000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:69508800-69513800	Enhancers	Brain Hippocampus Middle	brain
10	chr14:69508800-69513800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:69508800-69513800	Enhancers	NHDF-Ad	bronchial
12	chr14:69508800-69514600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:69508800-69516600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:69508800-69518000	Enhancers	Fetal Muscle Leg	muscle
15	chr14:69509000-69511800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:69509000-69513800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:69509200-69512800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr14:69509400-69512400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:69509400-69513800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:69509400-69513800	Enhancers	Ovary	ovary
21	chr14:69509400-69514000	Enhancers	NH-A	brain
22	chr14:69509600-69511000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr14:69509600-69511400	Enhancers	HSMM	muscle
24	chr14:69509600-69512000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:69509600-69512200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:69509600-69512400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:69509600-69513000	Enhancers	Pancreas	Pancrea
28	chr14:69509600-69513400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:69509600-69513800	Enhancers	Colonic Mucosa	Colon
30	chr14:69509600-69513800	Enhancers	Esophagus	oesophagus
31	chr14:69509600-69513800	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:69509600-69513800	Enhancers	Psoas Muscle	Psoas
33	chr14:69509600-69513800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr14:69509600-69513800	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:69509600-69514400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:69509600-69515600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:69509600-69516400	Enhancers	HUVEC	blood vessel
38	chr14:69509800-69512000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:69509800-69512200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr14:69509800-69513200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:69509800-69513800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr14:69509800-69513800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:69509800-69513800	Enhancers	Right Atrium	heart
44	chr14:69509800-69513800	Enhancers	Small Intestine	intestine
45	chr14:69509800-69513800	Enhancers	NHLF	lung
46	chr14:69509800-69514000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr14:69509800-69514400	Enhancers	Colon Smooth Muscle	Colon
48	chr14:69509800-69514400	Enhancers	Left Ventricle	heart
49	chr14:69509800-69517400	Enhancers	Placenta	Placenta
50	chr14:69509800-69517800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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