Variant report

Variant	rs4083518
Chromosome Location	chr14:36741476-36741477
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36739666..36742566-chr14:36744671..36747415,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10133125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156909	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558802	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11844502	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884915	1.00[CEU][hapmap]
rs12890888	0.88[EUR][1000 genomes]
rs12897795	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104430	1.00[CEU][hapmap]
rs2415332	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2415334	0.86[ASN][1000 genomes]
rs2415335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415339	0.90[EUR][1000 genomes]
rs2553575	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2899849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3168891	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3742592	0.82[CEU][hapmap]
rs3762904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805353	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805354	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842844	0.92[EUR][1000 genomes]
rs3844012	0.88[EUR][1000 genomes]
rs3844013	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850257	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850258	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850260	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850267	0.88[EUR][1000 genomes]
rs3850268	0.88[EUR][1000 genomes]
rs3861477	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861481	0.88[EUR][1000 genomes]
rs3909608	0.88[EUR][1000 genomes]
rs3909615	0.84[EUR][1000 genomes]
rs4127807	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378535	0.86[EUR][1000 genomes]
rs4898561	0.84[EUR][1000 genomes]
rs4898563	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898597	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898598	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900716	0.84[EUR][1000 genomes]
rs4900717	0.84[EUR][1000 genomes]
rs4900732	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900733	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900790	0.84[EUR][1000 genomes]
rs4900833	0.82[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4900924	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4901456	0.92[EUR][1000 genomes]
rs4901597	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6571742	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140630	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142956	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146921	0.88[EUR][1000 genomes]
rs7154340	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155498	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157811	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7159366	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013261	0.84[EUR][1000 genomes]
rs9788479	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1041441	chr14:36545463-36756347	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv542041	chr14:36545463-36756347	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv34543	chr14:36736349-36772564	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36737000-36741600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:36740400-36742400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:36740600-36741600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr14:36740800-36741600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:36740800-36742200	Weak transcription	K562	blood
6	chr14:36741000-36741800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr14:36741000-36741800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr14:36741000-36742000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr14:36741200-36741600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:36741200-36741600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:36741200-36741600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:36741200-36741600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr14:36741200-36741600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:36741200-36741600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr14:36741200-36741600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr14:36741200-36741600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
17	chr14:36741200-36742000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr14:36741200-36742000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr14:36741200-36742000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
20	chr14:36741200-36742200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:36741200-36742200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr14:36741400-36741600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr14:36741400-36741600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:36741400-36741600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr14:36741400-36741600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:36741400-36741600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:36741400-36741600	Bivalent Enhancer	Liver	Liver
28	chr14:36741400-36741600	Active TSS	Brain Anterior Caudate	brain
29	chr14:36741400-36741600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:36741400-36741600	Active TSS	Colonic Mucosa	Colon
31	chr14:36741400-36741600	Active TSS	Colon Smooth Muscle	Colon
32	chr14:36741400-36741600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr14:36741400-36741600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr14:36741400-36741600	Bivalent Enhancer	Fetal Heart	heart
35	chr14:36741400-36741600	Bivalent Enhancer	Fetal Thymus	thymus
36	chr14:36741400-36741600	Enhancers	Gastric	stomach
37	chr14:36741400-36741600	Bivalent Enhancer	Left Ventricle	heart
38	chr14:36741400-36741600	Enhancers	Ovary	ovary
39	chr14:36741400-36741600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr14:36741400-36741600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr14:36741400-36741600	Active TSS	Right Atrium	heart
42	chr14:36741400-36741600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr14:36741400-36741600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
44	chr14:36741400-36741600	Bivalent/Poised TSS	HSMM	muscle
45	chr14:36741400-36741600	Bivalent/Poised TSS	HSMMtube	muscle
46	chr14:36741400-36741800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:36741400-36741800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
48	chr14:36741400-36741800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr14:36741400-36741800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
50	chr14:36741400-36741800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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