Variant report

Variant	rs4906386
Chromosome Location	chr14:104385012-104385013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:104384940-104385090	GM12867	blood:	n/a	n/a
2	RAD21	chr14:104384840-104385165	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104383999..104386148-chr14:104386377..104388170,2	MCF-7	breast:
2	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
3	chr14:104380356..104382278-chr14:104382804..104385092,2	MCF-7	breast:
4	chr14:104383824..104385771-chr14:104411318..104413343,2	K562	blood:
5	chr14:104377058..104380322-chr14:104382660..104385611,3	MCF-7	breast:
6	chr14:104384353..104387196-chr14:104404625..104406851,3	MCF-7	breast:
7	chr14:104383824..104386788-chr14:104411318..104413343,3	K562	blood:

No data

Variant related genes	Relation type
C14orf2	TF binding region
ENSG00000156414	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000156411	Chromatin interaction
ENSG00000258735	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10129730	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131031	1.00[JPT][hapmap]
rs10131792	0.90[AFR][1000 genomes]
rs10137676	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10137889	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10139210	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10140292	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs10140390	0.82[AMR][1000 genomes]
rs10142365	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10145882	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs10149898	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12431625	0.82[AMR][1000 genomes]
rs12436665	1.00[JPT][hapmap]
rs12437404	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17101922	1.00[JPT][hapmap];0.80[LWK][hapmap];0.85[MKK][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2368996	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs28407129	1.00[ASN][1000 genomes]
rs28493894	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28514602	0.81[AFR][1000 genomes]
rs28563863	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34606901	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4900603	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4900606	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4906384	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906388	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4906393	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4906394	0.87[AFR][1000 genomes]
rs4906403	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4906407	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs55746000	0.82[AFR][1000 genomes]
rs55866217	0.82[AFR][1000 genomes]
rs55920546	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56050561	0.87[AFR][1000 genomes]
rs56817754	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58071582	1.00[ASN][1000 genomes]
rs58128911	0.81[AFR][1000 genomes]
rs58701300	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59838226	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60242182	0.88[AMR][1000 genomes]
rs7150795	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs74086761	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74086762	1.00[ASN][1000 genomes]
rs74086783	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8009847	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8020110	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8022769	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324070	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9671924	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104375000-104385800	Weak transcription	Small Intestine	intestine
3	chr14:104376800-104386200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:104376800-104387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:104376800-104387000	Weak transcription	Stomach Mucosa	stomach
6	chr14:104377200-104385600	Strong transcription	Fetal Intestine Small	intestine
7	chr14:104377200-104386400	Weak transcription	Fetal Heart	heart
8	chr14:104377200-104386800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:104377400-104385200	Strong transcription	Fetal Brain Female	brain
10	chr14:104377400-104385200	Strong transcription	Fetal Muscle Leg	muscle
11	chr14:104377400-104386000	Strong transcription	Fetal Stomach	stomach
12	chr14:104377600-104385200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:104378000-104385200	Strong transcription	Lung	lung
14	chr14:104378000-104385800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:104378000-104387200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:104378600-104387000	Weak transcription	NHDF-Ad	bronchial
17	chr14:104380200-104387200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:104380400-104386000	Weak transcription	Psoas Muscle	Psoas
19	chr14:104380600-104386400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:104380600-104387000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:104380600-104387000	Weak transcription	HUVEC	blood vessel
22	chr14:104380800-104385800	Weak transcription	HMEC	breast
23	chr14:104380800-104386800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:104381000-104385800	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:104381000-104386000	Weak transcription	Fetal Brain Male	brain
26	chr14:104381400-104385800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:104381400-104385800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:104381400-104386800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:104381600-104386000	Weak transcription	GM12878-XiMat	blood
30	chr14:104381600-104386800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:104382600-104386600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:104382600-104387000	Weak transcription	HSMMtube	muscle
33	chr14:104382800-104387000	Weak transcription	Osteobl	bone
34	chr14:104383000-104386600	Weak transcription	Primary B cells from cord blood	blood
35	chr14:104383400-104385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:104383400-104385600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:104383400-104385800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:104383400-104387000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:104383800-104386000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:104384200-104386000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:104384200-104387000	Enhancers	Pancreas	Pancrea
42	chr14:104384200-104387000	Weak transcription	NH-A	brain
43	chr14:104384400-104385800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:104384400-104385800	Weak transcription	Adipose Nuclei	Adipose
45	chr14:104384400-104385800	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:104384400-104385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:104384400-104385800	Weak transcription	Spleen	Spleen
48	chr14:104384400-104386200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:104384400-104386800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:104384600-104385200	Weak transcription	Colonic Mucosa	Colon

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