Variant report

Variant	rs41314529
Chromosome Location	chr14:67648628-67648629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13595	1.00[EUR][1000 genomes]
rs17103832	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103837	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103839	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103943	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1950283	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2207256	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41285472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41285474	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41285532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4477618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45515505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr14:67614400-67653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:67618400-67658200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:67634600-67653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:67635000-67652800	Weak transcription	NHEK	skin
5	chr14:67635000-67653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:67639600-67658600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:67640200-67649600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:67645400-67653000	Weak transcription	HSMM	muscle
9	chr14:67645800-67648800	Strong transcription	Liver	Liver
10	chr14:67645800-67652800	Weak transcription	Primary T cells from cord blood	blood
11	chr14:67645800-67656400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:67645800-67658200	Weak transcription	Brain Anterior Caudate	brain
13	chr14:67646000-67648800	Weak transcription	Thymus	Thymus
14	chr14:67646000-67653200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:67646000-67653400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:67646000-67653400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:67646000-67655800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:67646200-67649000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:67646200-67652600	Weak transcription	Brain Germinal Matrix	brain
20	chr14:67646200-67656200	Weak transcription	Psoas Muscle	Psoas
21	chr14:67646400-67650200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:67646400-67652800	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:67646600-67651000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:67647400-67653000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:67647600-67649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:67647600-67652800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:67647600-67653200	Weak transcription	HSMMtube	muscle
28	chr14:67647800-67651200	Weak transcription	Lung	lung
29	chr14:67647800-67652400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:67647800-67653200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:67647800-67653600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:67647800-67658400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:67648200-67649600	Weak transcription	Fetal Intestine Small	intestine
34	chr14:67648200-67649800	Weak transcription	Fetal Intestine Large	intestine
35	chr14:67648200-67649800	Weak transcription	Fetal Lung	lung
36	chr14:67648200-67649800	Weak transcription	Right Ventricle	heart
37	chr14:67648200-67651600	Weak transcription	Dnd41	blood
38	chr14:67648200-67652600	Weak transcription	GM12878-XiMat	blood
39	chr14:67648200-67653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:67648200-67653400	Weak transcription	Gastric	stomach
41	chr14:67648200-67653400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:67648200-67653400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:67648200-67653400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:67648200-67654400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:67648200-67656000	Weak transcription	Aorta	Aorta
46	chr14:67648200-67656000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:67648200-67656000	Weak transcription	Spleen	Spleen
48	chr14:67648200-67656200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:67648200-67658200	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:67648200-67658200	Weak transcription	Brain Substantia Nigra	brain

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