Variant report

Variant	rs17154295
Chromosome Location	chr7:26706802-26706803
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26408877..26409777-chr7:26706557..26707867,5	K562	blood:
2	chr7:26705980..26708801-chr7:26709230..26711204,3	K562	blood:
3	chr7:26416346..26417264-chr7:26706784..26707684,6	MCF-7	breast:
4	chr7:26416040..26417569-chr7:26706693..26708540,2	MCF-7	breast:
5	chr7:26407824..26409906-chr7:26706446..26707818,12	MCF-7	breast:
6	chr7:26705980..26708801-chr7:26709438..26711204,2	K562	blood:
7	chr7:26408832..26410672-chr7:26706732..26707750,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225792	Chromatin interaction
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10231663	1.00[MEX][hapmap]
rs10244449	1.00[MEX][hapmap]
rs10248592	1.00[MEX][hapmap]
rs10258711	1.00[MEX][hapmap]
rs10258868	1.00[MEX][hapmap]
rs10270501	1.00[AMR][1000 genomes]
rs17153818	1.00[JPT][hapmap]
rs17153845	1.00[JPT][hapmap]
rs17153862	1.00[JPT][hapmap]
rs17154348	1.00[MEX][hapmap]
rs213535	1.00[JPT][hapmap]
rs730956	1.00[JPT][hapmap]
rs740181	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17154295	ADAM23	trans	lymphoblastoid	seeQTL
rs17154295	SLC7A3	trans	lymphoblastoid	seeQTL
rs17154295	VIM	trans	lymphoblastoid	seeQTL
rs17154295	NFE2L3	cis	lymphoblastoid	seeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26678800-26715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:26679400-26710000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:26696800-26708000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:26699200-26707000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:26699200-26707000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:26702200-26707800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:26703000-26707000	Weak transcription	Aorta	Aorta
8	chr7:26703400-26709600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:26704800-26707000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:26704800-26707200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:26704800-26712800	Weak transcription	Primary B cells from cord blood	blood
12	chr7:26705000-26707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:26705000-26707000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:26705000-26707000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:26705000-26707000	Weak transcription	Fetal Kidney	kidney
16	chr7:26705000-26707000	Weak transcription	NHEK	skin
17	chr7:26705000-26707200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:26705000-26707200	Enhancers	Adipose Nuclei	Adipose
19	chr7:26705000-26707800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:26705000-26714600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:26705000-26714600	Weak transcription	NHLF	lung
22	chr7:26705000-26716000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:26705200-26707200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:26705200-26707400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:26705200-26707600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:26705400-26707000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:26705400-26707000	Weak transcription	Liver	Liver
29	chr7:26705400-26707000	Weak transcription	Hela-S3	cervix
30	chr7:26705400-26707000	Weak transcription	HUVEC	blood vessel
31	chr7:26705400-26707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:26706000-26707200	Weak transcription	Dnd41	blood
33	chr7:26706400-26707200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:26706400-26707600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:26706400-26707600	Enhancers	Brain Germinal Matrix	brain
36	chr7:26706800-26707000	Enhancers	Fetal Brain Female	brain
37	chr7:26706800-26707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:26706800-26708200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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