Variant report

Variant	rs7368897
Chromosome Location	chr2:39023927-39023928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38977354..38979972-chr2:39022063..39024082,2	MCF-7	breast:
2	chr2:38976358..38980651-chr2:39023669..39028032,5	K562	blood:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1376461	1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17023025	0.82[JPT][hapmap]
rs3099947	1.00[JPT][hapmap]
rs3099967	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3112138	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3112158	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3112160	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3112164	1.00[JPT][hapmap]
rs3112176	0.84[JPT][hapmap]
rs3112203	0.83[AFR][1000 genomes]
rs3112213	0.84[ASN][1000 genomes]
rs59473852	1.00[ASN][1000 genomes]
rs6544182	1.00[JPT][hapmap]
rs6707855	0.84[ASN][1000 genomes]
rs6712917	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6722478	1.00[JPT][hapmap]
rs6748000	1.00[JPT][hapmap]
rs6760524	0.85[JPT][hapmap]
rs6761115	1.00[ASN][1000 genomes]
rs7582103	0.81[AFR][1000 genomes]
rs921433	1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7368897	SOS1	cis	multi-tissue	Pritchard

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39005800-39037400	Weak transcription	Esophagus	oesophagus
2	chr2:39006000-39037600	Weak transcription	Aorta	Aorta
3	chr2:39006000-39037600	Weak transcription	Gastric	stomach
4	chr2:39006200-39025200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:39006200-39029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:39006200-39029800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:39006200-39031800	Weak transcription	Right Ventricle	heart
8	chr2:39006400-39024000	Weak transcription	Osteobl	bone
9	chr2:39006400-39025200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:39006400-39025200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:39006400-39029600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:39006400-39037800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:39006400-39045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:39006400-39085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:39006600-39025200	Weak transcription	Fetal Brain Female	brain
16	chr2:39006600-39031600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:39006600-39032200	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:39006600-39033600	Weak transcription	GM12878-XiMat	blood
19	chr2:39006600-39038200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:39006800-39031800	Weak transcription	Fetal Brain Male	brain
21	chr2:39008800-39024200	Weak transcription	Left Ventricle	heart
22	chr2:39009000-39024600	Weak transcription	Spleen	Spleen
23	chr2:39009000-39024600	Weak transcription	Dnd41	blood
24	chr2:39009000-39027400	Weak transcription	Thymus	Thymus
25	chr2:39009000-39027800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:39009000-39029200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:39009000-39037400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:39009200-39024000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:39009200-39024200	Weak transcription	Brain Anterior Caudate	brain
30	chr2:39009200-39024400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:39009200-39024400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:39009200-39024400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:39009200-39024600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:39009200-39024600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:39009200-39024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:39009200-39025000	Weak transcription	HSMM	muscle
37	chr2:39009200-39027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:39009200-39027800	Weak transcription	Brain Substantia Nigra	brain
39	chr2:39009200-39029600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:39009200-39029800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:39009200-39032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:39009200-39032000	Weak transcription	K562	blood
43	chr2:39009200-39032400	Weak transcription	Primary B cells from cord blood	blood
44	chr2:39009200-39032400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:39009200-39037600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:39009200-39037600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:39009200-39037600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:39009200-39037600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:39009200-39037600	Weak transcription	NHDF-Ad	bronchial
50	chr2:39009200-39037800	Weak transcription	NHEK	skin

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