Variant report

Variant	rs2240535
Chromosome Location	chr14:71511602-71511603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10162332	1.00[JPT][hapmap]
rs11628267	1.00[JPT][hapmap]
rs12586505	1.00[JPT][hapmap]
rs2079305	1.00[JPT][hapmap]
rs2240342	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2240536	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35702999	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3814870	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45493192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45572740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45604540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56146244	1.00[ASN][1000 genomes]
rs740072	1.00[JPT][hapmap]
rs917063	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71495800-71546200	Weak transcription	Stomach Mucosa	stomach
2	chr14:71497000-71554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:71499600-71540800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:71502000-71513600	Weak transcription	HepG2	liver
5	chr14:71503000-71526400	Weak transcription	Gastric	stomach
6	chr14:71503400-71524400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:71503400-71526600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:71503400-71527200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:71503600-71519400	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:71506000-71511800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:71506000-71512600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:71506000-71515800	Strong transcription	HSMM	muscle
13	chr14:71506000-71516200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:71506600-71512000	Weak transcription	NH-A	brain
15	chr14:71506600-71520800	Strong transcription	Liver	Liver
16	chr14:71506800-71520400	Weak transcription	HSMMtube	muscle
17	chr14:71507000-71531600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:71507600-71518400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:71508000-71524200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:71508000-71530800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:71508200-71518400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:71508400-71524200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:71508800-71512600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:71508800-71518400	Weak transcription	HUVEC	blood vessel
25	chr14:71509400-71512400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:71509400-71516600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:71509800-71512000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr14:71509800-71515600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:71510000-71511800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr14:71510000-71512200	Weak transcription	A549	lung
31	chr14:71510000-71512600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:71510000-71516800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:71510000-71516800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:71510000-71526800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:71510000-71531600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:71510000-71531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:71510000-71532600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:71510200-71526400	Weak transcription	Right Ventricle	heart
39	chr14:71510200-71532000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:71510200-71538200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr14:71510400-71511800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr14:71510400-71512000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:71510400-71512600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:71510400-71530000	Strong transcription	Dnd41	blood
45	chr14:71510600-71511800	Strong transcription	Osteobl	bone
46	chr14:71510600-71512200	Strong transcription	Brain Anterior Caudate	brain
47	chr14:71510600-71512200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr14:71510600-71512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:71510800-71511800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:71510800-71511800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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