Variant report

Variant	rs8009454
Chromosome Location	chr14:56069623-56069624
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1951888	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951891	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56322135	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56723444	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59821184	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053630	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053638	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053645	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053646	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053649	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053656	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053658	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053660	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053661	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56048600-56070800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:56052000-56080200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:56056200-56076000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:56058600-56070600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:56059400-56070000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:56059800-56069800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:56060400-56072000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:56061000-56085400	Weak transcription	Fetal Kidney	kidney
10	chr14:56061000-56085400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:56061200-56082400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:56062000-56070400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:56064200-56082800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:56066200-56070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:56066400-56070400	Weak transcription	Psoas Muscle	Psoas
16	chr14:56066400-56070600	Weak transcription	Thymus	Thymus
17	chr14:56066400-56079000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:56066400-56079800	Weak transcription	K562	blood
19	chr14:56066600-56070200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:56066600-56070400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:56066600-56072400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:56066600-56076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:56066600-56079000	Weak transcription	Fetal Intestine Large	intestine
24	chr14:56066600-56079200	Weak transcription	Placenta	Placenta
25	chr14:56066600-56086200	Weak transcription	Fetal Intestine Small	intestine
26	chr14:56066600-56086200	Weak transcription	Gastric	stomach
27	chr14:56066800-56079200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:56066800-56080000	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:56066800-56086200	Weak transcription	Fetal Stomach	stomach
30	chr14:56067400-56070600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:56067400-56074600	Enhancers	HepG2	liver
32	chr14:56067600-56070600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:56067600-56080600	Weak transcription	GM12878-XiMat	blood
34	chr14:56067800-56075800	Weak transcription	NHLF	lung
35	chr14:56067800-56079000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:56067800-56082200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:56068000-56069800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:56068000-56070600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:56068000-56072200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:56068000-56081400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:56068200-56069800	Weak transcription	Fetal Heart	heart
42	chr14:56068200-56070200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:56068200-56070200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:56068200-56070400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:56068200-56070600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:56068200-56070600	Weak transcription	Brain Anterior Caudate	brain
47	chr14:56068200-56071000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr14:56068200-56071200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:56068200-56071600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:56068400-56069800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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