Variant report

Variant	rs7789474
Chromosome Location	chr7:150110293-150110294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150022933..150025401-chr7:150110012..150111550,2	K562	blood:
2	chr7:150063792..150066571-chr7:150110080..150112407,2	MCF-7	breast:
3	chr7:150102171..150104524-chr7:150108247..150110337,3	MCF-7	breast:
4	chr7:150066619..150068993-chr7:150107734..150110689,2	K562	blood:

Variant related genes	Relation type
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2030681	0.85[AMR][1000 genomes]
rs2888634	0.91[AFR][1000 genomes]
rs4236427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4540328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4725892	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4725894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription 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	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150103400-150112200	Weak transcription	Ovary	ovary
2	chr7:150103600-150110600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:150104000-150111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:150104400-150110600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:150104400-150112800	Weak transcription	Fetal Lung	lung
6	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
7	chr7:150104600-150112800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150104600-150117800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:150104600-150118000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:150104600-150118000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:150104600-150118000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:150104600-150118200	Weak transcription	Placenta	Placenta
13	chr7:150104800-150110800	Weak transcription	HepG2	liver
14	chr7:150104800-150111000	Strong transcription	Fetal Intestine Small	intestine
15	chr7:150105400-150110400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr7:150106000-150110400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr7:150106400-150110400	Strong transcription	Primary T cells from cord blood	blood
18	chr7:150106400-150111200	Strong transcription	Thymus	Thymus
19	chr7:150107000-150111200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:150107600-150111200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:150107600-150118000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:150107800-150112000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:150108000-150112200	Weak transcription	Liver	Liver
24	chr7:150108000-150113400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:150108000-150117800	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:150108200-150124000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:150108400-150110400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:150108400-150110800	Strong transcription	Fetal Thymus	thymus
29	chr7:150108400-150111800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:150108400-150118000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:150108400-150118000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:150108400-150125000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:150108600-150110400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:150108600-150110600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:150108600-150110800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:150108600-150113000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:150108600-150114200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:150108600-150115000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:150108600-150118000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:150108600-150118200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:150108800-150110800	Weak transcription	Lung	lung
42	chr7:150108800-150111200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:150108800-150111200	Weak transcription	Right Ventricle	heart
44	chr7:150108800-150114800	Weak transcription	Esophagus	oesophagus
45	chr7:150108800-150117400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:150108800-150117800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:150108800-150118000	Weak transcription	Brain Anterior Caudate	brain
48	chr7:150108800-150118000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:150108800-150118000	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:150108800-150118200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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