Variant report

Variant	rs10240718
Chromosome Location	chr7:38230538-38230539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38227891..38230649-chr7:38232228..38236462,5	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10155915	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10155916	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs10225030	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225646	1.00[ASN][1000 genomes]
rs10225741	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10226530	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs10237981	1.00[ASN][1000 genomes]
rs10240583	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs10241826	1.00[ASN][1000 genomes]
rs10251168	1.00[ASN][1000 genomes]
rs10251419	1.00[ASN][1000 genomes]
rs10252428	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256322	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262830	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs10263628	1.00[ASN][1000 genomes]
rs11977372	1.00[ASN][1000 genomes]
rs28446898	1.00[ASN][1000 genomes]
rs28469212	1.00[ASN][1000 genomes]
rs28654622	1.00[ASN][1000 genomes]
rs28690002	1.00[ASN][1000 genomes]
rs28722090	1.00[ASN][1000 genomes]
rs4262243	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs4587236	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs55819448	1.00[ASN][1000 genomes]
rs58176718	1.00[ASN][1000 genomes]
rs66964303	1.00[ASN][1000 genomes]
rs67509206	1.00[ASN][1000 genomes]
rs67646873	1.00[ASN][1000 genomes]
rs67716508	1.00[ASN][1000 genomes]
rs68039809	1.00[ASN][1000 genomes]
rs73130655	1.00[ASN][1000 genomes]
rs7357350	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
3	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	37 gene(s)	inside rSNPs	diseases
4	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1030349	chr7:38227528-38372719	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv538818	chr7:38227528-38372719	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
9	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv433041	chr7:38229107-38358728	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
2	chr7:38219600-38241400	Weak transcription	Fetal Intestine Large	intestine
3	chr7:38219800-38234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:38220200-38235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr7:38220200-38235400	Weak transcription	Thymus	Thymus
6	chr7:38220200-38236800	Weak transcription	Fetal Stomach	stomach
7	chr7:38220200-38246600	Weak transcription	Fetal Thymus	thymus
8	chr7:38220200-38254800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:38220400-38232400	Weak transcription	Fetal Brain Male	brain
10	chr7:38220400-38247000	Weak transcription	Fetal Intestine Small	intestine
11	chr7:38220800-38231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:38221000-38236400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:38221000-38246800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:38223600-38255600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:38224000-38231400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:38224200-38235800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:38224200-38235800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:38224200-38235800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:38225000-38247000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:38225600-38235800	Weak transcription	Ovary	ovary
21	chr7:38225800-38235800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:38227000-38231000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:38227000-38235400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:38227000-38235400	Weak transcription	NHLF	lung
25	chr7:38227000-38237400	Weak transcription	Aorta	Aorta
26	chr7:38227200-38231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:38227600-38238400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:38227800-38230600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:38227800-38230800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:38228000-38235400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:38228000-38236800	Weak transcription	Left Ventricle	heart
32	chr7:38228000-38256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:38228200-38230800	Genic enhancers	HSMM	muscle
34	chr7:38228200-38237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:38228200-38237400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:38228200-38239400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:38228200-38241400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:38228200-38254400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:38228800-38230600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:38228800-38235800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:38228800-38239600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:38228800-38247200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:38229000-38236800	Weak transcription	Fetal Heart	heart
44	chr7:38229200-38249200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:38229600-38246600	Weak transcription	Primary B cells from cord blood	blood
46	chr7:38229800-38230600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:38229800-38231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:38229800-38232000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:38229800-38233800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:38229800-38237400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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