Variant report

Variant	rs8009618
Chromosome Location	chr14:104213087-104213088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:104213000-104213150	WI-38	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104202267..104204342-chr14:104211278..104213145,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XRCC3-6	chr14:104213045-104213197	NONHSAT040217

Variant related genes	Relation type
PPP1R13B	TF binding region
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11847312	1.00[EUR][1000 genomes]
rs11848174	1.00[ASN][1000 genomes]
rs11849022	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101760	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101763	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17101767	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2024668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274265	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3212031	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212049	0.92[ASN][1000 genomes]
rs3212056	0.92[ASN][1000 genomes]
rs3212058	0.92[ASN][1000 genomes]
rs3212064	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212071	0.92[ASN][1000 genomes]
rs3212078	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212086	0.92[ASN][1000 genomes]
rs3212106	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212112	0.92[ASN][1000 genomes]
rs3212117	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212121	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3212133	0.84[ASN][1000 genomes]
rs34100926	0.92[ASN][1000 genomes]
rs35905888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736911	0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3742362	0.84[ASN][1000 genomes]
rs3742368	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3742464	0.84[ASN][1000 genomes]
rs3783406	0.84[ASN][1000 genomes]
rs55650682	0.92[ASN][1000 genomes]
rs55958706	0.92[ASN][1000 genomes]
rs56726433	1.00[ASN][1000 genomes]
rs58899741	1.00[ASN][1000 genomes]
rs58909811	0.84[ASN][1000 genomes]
rs61668766	1.00[EUR][1000 genomes]
rs74085289	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74086597	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74088714	1.00[ASN][1000 genomes]
rs8007670	1.00[GIH][hapmap];0.82[MKK][hapmap];1.00[EUR][1000 genomes]
rs8018770	0.84[ASN][1000 genomes]
rs8020907	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs8021384	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282879	0.92[ASN][1000 genomes]
rs9707589	0.84[ASN][1000 genomes]

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	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr14:104195800-104215200	Weak transcription	HSMM	muscle
6	chr14:104196000-104214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
8	chr14:104198000-104218800	Strong transcription	Gastric	stomach
9	chr14:104198200-104224800	Strong transcription	Left Ventricle	heart
10	chr14:104200000-104220200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:104200200-104214400	Weak transcription	Aorta	Aorta
12	chr14:104200200-104219600	Weak transcription	A549	lung
13	chr14:104200400-104231800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:104200600-104216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:104201000-104215800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:104201400-104214800	Weak transcription	GM12878-XiMat	blood
18	chr14:104202400-104216200	Weak transcription	Fetal Heart	heart
19	chr14:104203000-104220200	Weak transcription	NHLF	lung
20	chr14:104203200-104216800	Strong transcription	Pancreas	Pancrea
21	chr14:104203200-104220200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:104203200-104224600	Weak transcription	Fetal Brain Male	brain
23	chr14:104203200-104267800	Weak transcription	Psoas Muscle	Psoas
24	chr14:104203400-104213400	Strong transcription	Rectal Smooth Muscle	rectum
25	chr14:104203600-104220600	Strong transcription	Fetal Stomach	stomach
26	chr14:104204000-104216200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:104204200-104220600	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:104204800-104216400	Strong transcription	Placenta	Placenta
29	chr14:104204800-104216800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr14:104206200-104222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:104206400-104214800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:104206400-104217600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:104206600-104213200	Weak transcription	Thymus	Thymus
34	chr14:104206600-104219200	Weak transcription	Stomach Mucosa	stomach
35	chr14:104206800-104219800	Weak transcription	Brain Germinal Matrix	brain
36	chr14:104206800-104222800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:104207200-104214800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:104207400-104219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:104207800-104214600	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:104207800-104214800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:104208000-104224600	Weak transcription	Fetal Brain Female	brain
42	chr14:104208000-104224600	Weak transcription	Fetal Lung	lung
43	chr14:104208400-104214800	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:104208400-104220600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:104208400-104228200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:104208600-104215600	Weak transcription	HUVEC	blood vessel
47	chr14:104208800-104214000	Weak transcription	Primary T cells from cord blood	blood
48	chr14:104208800-104214200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:104208800-104260000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:104209000-104213600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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