Variant report

Variant	rs73236918
Chromosome Location	chr14:35636699-35636700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35628255..35632944-chr14:35633604..35637748,5	MCF-7	breast:
2	chr14:35631921..35634177-chr14:35636642..35638625,2	K562	blood:
3	chr14:35636279..35638693-chr14:35643286..35645234,2	K562	blood:
4	chr14:35636158..35638112-chr14:35872373..35874812,2	MCF-7	breast:
5	chr14:35634398..35636898-chr14:35641045..35642555,2	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction
ENSG00000259090	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1040839	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498331	1.00[ASN][1000 genomes]
rs11844096	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844257	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846137	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846194	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846536	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847511	1.00[ASN][1000 genomes]
rs11847515	1.00[ASN][1000 genomes]
rs11847715	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848312	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848506	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848999	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431902	1.00[ASN][1000 genomes]
rs12434128	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435977	1.00[ASN][1000 genomes]
rs12436274	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436663	1.00[ASN][1000 genomes]
rs12436672	1.00[ASN][1000 genomes]
rs12437331	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17103184	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415270	1.00[ASN][1000 genomes]
rs2415271	1.00[ASN][1000 genomes]
rs2415272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34384582	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239200	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981255	1.00[ASN][1000 genomes]
rs4981269	1.00[ASN][1000 genomes]
rs4981271	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982245	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758852	1.00[ASN][1000 genomes]
rs55911753	1.00[ASN][1000 genomes]
rs56658608	1.00[ASN][1000 genomes]
rs56994597	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59275448	1.00[ASN][1000 genomes]
rs59482644	1.00[ASN][1000 genomes]
rs60871552	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571697	1.00[ASN][1000 genomes]
rs7140254	1.00[ASN][1000 genomes]
rs7141714	1.00[ASN][1000 genomes]
rs7141992	1.00[ASN][1000 genomes]
rs7142246	1.00[ASN][1000 genomes]
rs7144806	1.00[ASN][1000 genomes]
rs7144845	1.00[ASN][1000 genomes]
rs7149841	1.00[ASN][1000 genomes]
rs7150725	1.00[ASN][1000 genomes]
rs7151250	1.00[ASN][1000 genomes]
rs73234501	1.00[ASN][1000 genomes]
rs73236907	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236913	1.00[ASN][1000 genomes]
rs73236919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236938	1.00[ASN][1000 genomes]
rs73236939	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236946	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236950	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236968	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236982	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236983	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236995	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239016	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239022	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239081	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239096	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240724	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74043851	1.00[ASN][1000 genomes]
rs7492529	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743524	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1050700	chr14:35548276-35639084	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
19	nsv1047992	chr14:35563220-35639084	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
21	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
22	nsv1053978	chr14:35571762-35639084	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv1040300	chr14:35602956-35643888	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1046680	chr14:35608347-35665374	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr14:35593000-35638200	Weak transcription	Fetal Brain Male	brain
2	chr14:35593000-35660400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:35603200-35663400	Weak transcription	Fetal Lung	lung
4	chr14:35604200-35651400	Weak transcription	Esophagus	oesophagus
5	chr14:35604400-35642000	Weak transcription	Lung	lung
6	chr14:35604400-35651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:35604400-35660200	Weak transcription	Aorta	Aorta
8	chr14:35604600-35667400	Weak transcription	Spleen	Spleen
9	chr14:35607400-35642800	Weak transcription	Left Ventricle	heart
10	chr14:35607400-35662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:35607600-35661200	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:35612000-35659800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:35612200-35641800	Weak transcription	Fetal Stomach	stomach
14	chr14:35622000-35645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:35625000-35645200	Weak transcription	Gastric	stomach
16	chr14:35625400-35644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:35625600-35637800	Weak transcription	Brain Anterior Caudate	brain
18	chr14:35625600-35643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:35625600-35644600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:35625600-35645200	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:35625600-35650000	Weak transcription	Psoas Muscle	Psoas
22	chr14:35625600-35662200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:35625600-35662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:35625800-35643000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:35626200-35650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:35626400-35651200	Weak transcription	Ovary	ovary
27	chr14:35626400-35658000	Weak transcription	Fetal Brain Female	brain
28	chr14:35627000-35645400	Weak transcription	HSMMtube	muscle
29	chr14:35627400-35638400	Weak transcription	Fetal Heart	heart
30	chr14:35628600-35670200	Weak transcription	Thymus	Thymus
31	chr14:35628600-35672000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:35628800-35638600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:35628800-35638800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:35629000-35660600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:35629200-35638800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:35629200-35643200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:35629400-35638600	Weak transcription	Fetal Thymus	thymus
38	chr14:35629600-35638600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:35629600-35638600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:35629600-35642600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:35629600-35642600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:35629600-35650600	Weak transcription	Fetal Intestine Small	intestine
43	chr14:35629600-35666000	Weak transcription	HSMM	muscle
44	chr14:35630000-35643000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:35630000-35665800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr14:35630200-35642600	Weak transcription	Dnd41	blood
47	chr14:35630200-35644200	Weak transcription	Osteobl	bone
48	chr14:35630200-35649400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:35630200-35665000	Weak transcription	Fetal Kidney	kidney
50	chr14:35630400-35648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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