Variant report

Variant	rs67737953
Chromosome Location	chr14:70161587-70161588
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70051891..70054400-chr14:70161480..70163976,2	K562	blood:
2	chr14:70155138..70156935-chr14:70161474..70163461,2	MCF-7	breast:
3	chr14:70121974..70124991-chr14:70161364..70163471,3	K562	blood:
4	chr14:70161404..70164443-chr14:70166782..70169020,3	MCF-7	breast:
5	chr14:70136105..70138906-chr14:70160635..70163194,2	K562	blood:
6	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:
7	chr14:70127448..70130324-chr14:70160379..70163129,3	K562	blood:
8	chr14:70127448..70130324-chr14:70160379..70163129,2	K562	blood:
9	chr14:70160859..70163841-chr14:70176614..70179491,2	K562	blood:
10	chr14:70110323..70113249-chr14:70160948..70165525,4	K562	blood:
11	chr14:70116977..70119354-chr14:70161546..70163880,2	K562	blood:

No data

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10498530	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846784	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147464	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275825	0.83[EUR][1000 genomes]
rs2184599	0.85[EUR][1000 genomes]
rs4902749	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56399658	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56675062	0.83[ASN][1000 genomes]
rs58697041	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723899	0.86[EUR][1000 genomes]
rs72723901	0.86[EUR][1000 genomes]
rs867900	0.87[EUR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70155200-70162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:70156800-70164000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:70157000-70162000	Enhancers	Brain Hippocampus Middle	brain
4	chr14:70157400-70161800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:70157400-70164000	Enhancers	Adipose Nuclei	Adipose
6	chr14:70157600-70165600	Enhancers	Fetal Heart	heart
7	chr14:70157800-70161600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:70157800-70164600	Enhancers	Psoas Muscle	Psoas
9	chr14:70158200-70165600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr14:70158200-70166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:70158400-70165600	Enhancers	Small Intestine	intestine
12	chr14:70158400-70167000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:70158400-70170000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:70158600-70164600	Enhancers	Spleen	Spleen
15	chr14:70158800-70163200	Enhancers	Duodenum Mucosa	Duodenum
16	chr14:70158800-70163400	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:70158800-70163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:70158800-70163600	Enhancers	Liver	Liver
19	chr14:70158800-70164000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:70158800-70164000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:70158800-70164600	Enhancers	Brain Anterior Caudate	brain
22	chr14:70158800-70164600	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:70158800-70164600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:70158800-70164600	Enhancers	Fetal Intestine Large	intestine
25	chr14:70158800-70164800	Enhancers	Fetal Intestine Small	intestine
26	chr14:70158800-70165600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr14:70159200-70164000	Enhancers	Brain Angular Gyrus	brain
28	chr14:70159200-70164200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:70159200-70164600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:70159200-70164600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr14:70159200-70165800	Enhancers	Left Ventricle	heart
32	chr14:70159400-70162000	Enhancers	Brain Substantia Nigra	brain
33	chr14:70159400-70163000	Enhancers	Lung	lung
34	chr14:70159400-70163600	Enhancers	Right Atrium	heart
35	chr14:70159400-70164000	Enhancers	Colonic Mucosa	Colon
36	chr14:70159400-70164200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr14:70159400-70164200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:70159400-70164200	Enhancers	Colon Smooth Muscle	Colon
39	chr14:70159400-70164200	Enhancers	Fetal Thymus	thymus
40	chr14:70159400-70164200	Enhancers	Ovary	ovary
41	chr14:70159400-70164600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:70159400-70165600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:70159400-70170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:70159600-70161600	Enhancers	Fetal Kidney	kidney
45	chr14:70159600-70163400	Enhancers	Fetal Lung	lung
46	chr14:70159600-70163800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:70159600-70164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:70159600-70164600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:70159600-70164600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:70159600-70164600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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