Variant report

Variant	rs60854116
Chromosome Location	chr14:35622598-35622599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35622588..35627460-chr14:35872526..35876521,6	MCF-7	breast:
2	chr14:35614979..35617041-chr14:35619996..35622805,3	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10145433	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10148691	0.83[ASN][1000 genomes]
rs12437439	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12588810	0.83[ASN][1000 genomes]
rs12590678	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17091786	0.86[ASN][1000 genomes]
rs17103042	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295104	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2415269	0.94[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28618323	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28870452	0.80[ASN][1000 genomes]
rs58320987	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61191004	0.80[ASN][1000 genomes]
rs7147571	0.80[ASN][1000 genomes]
rs731906	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8020370	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8021414	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	38 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	nsv1240	chr14:35599027-35625361	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	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
27	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35592600-35625200	Weak transcription	Small Intestine	intestine
2	chr14:35593000-35638200	Weak transcription	Fetal Brain Male	brain
3	chr14:35593000-35660400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:35593200-35625200	Weak transcription	NH-A	brain
5	chr14:35593200-35625600	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:35593200-35627800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:35593200-35635400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:35594400-35629000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:35596000-35623600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:35597400-35625000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:35597600-35625000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:35603000-35625200	Weak transcription	HSMM	muscle
13	chr14:35603200-35623200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:35603200-35663400	Weak transcription	Fetal Lung	lung
15	chr14:35603400-35625200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:35604000-35624400	Weak transcription	NHEK	skin
17	chr14:35604200-35623200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:35604200-35625200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:35604200-35625200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:35604200-35628800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:35604200-35651400	Weak transcription	Esophagus	oesophagus
22	chr14:35604400-35623200	Weak transcription	A549	lung
23	chr14:35604400-35625200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:35604400-35625200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:35604400-35642000	Weak transcription	Lung	lung
26	chr14:35604400-35651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:35604400-35660200	Weak transcription	Aorta	Aorta
28	chr14:35604600-35625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:35604600-35625200	Weak transcription	Adipose Nuclei	Adipose
30	chr14:35604600-35626000	Weak transcription	Placenta	Placenta
31	chr14:35604600-35667400	Weak transcription	Spleen	Spleen
32	chr14:35604800-35624000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:35604800-35624600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:35604800-35625000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:35604800-35625200	Weak transcription	Liver	Liver
36	chr14:35604800-35625400	Weak transcription	HSMMtube	muscle
37	chr14:35605000-35625000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:35605600-35625200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:35605600-35625200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:35605600-35625200	Weak transcription	Hela-S3	cervix
41	chr14:35605600-35628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:35606400-35625200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:35607400-35628200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:35607400-35642800	Weak transcription	Left Ventricle	heart
45	chr14:35607400-35662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:35607600-35624600	Weak transcription	HMEC	breast
47	chr14:35607600-35625000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:35607600-35661200	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:35610000-35623000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:35610600-35623200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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