Variant report

Variant	rs6949587
Chromosome Location	chr7:150916228-150916229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150903033..150905442-chr7:150914497..150916686,3	MCF-7	breast:
2	chr7:150806359..150808651-chr7:150915357..150918189,2	K562	blood:
3	chr7:150671887..150673971-chr7:150915991..150917932,2	K562	blood:
4	chr7:150905577..150911406-chr7:150912646..150916801,5	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1870238	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2242141	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2256864	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2414	0.84[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2429248	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap]
rs2446065	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2487152	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2487154	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2487155	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608288	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2608291	0.81[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2608292	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2608293	0.81[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2792434	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2792435	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2792436	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800793	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725398	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4726009	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6464134	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs758249	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs897917	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921987	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6949587	ABCF2	Cis_1M	lymphoblastoid	RTeQTL
rs6949587	GIMAP6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150907600-150922600	Strong transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:150907800-150922200	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:150908000-150922600	Strong transcription	Brain Cingulate Gyrus	brain
4	chr7:150908000-150922800	Strong transcription	Brain Hippocampus Middle	brain
5	chr7:150908200-150922600	Strong transcription	Primary T cells from cord blood	blood
6	chr7:150908400-150922200	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr7:150908400-150923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:150908600-150922200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:150908600-150922400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:150908600-150922400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:150908800-150917000	Strong transcription	NHEK	skin
12	chr7:150908800-150920800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:150908800-150921800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:150908800-150922000	Strong transcription	Primary B cells from cord blood	blood
15	chr7:150908800-150922200	Strong transcription	Lung	lung
16	chr7:150908800-150922400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:150908800-150922400	Strong transcription	Fetal Intestine Small	intestine
18	chr7:150908800-150922600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:150908800-150922600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:150908800-150922800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:150908800-150923000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:150908800-150923000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:150909000-150922200	Strong transcription	Thymus	Thymus
24	chr7:150909000-150922400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:150909000-150922600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150909000-150923000	Strong transcription	Fetal Muscle Leg	muscle
27	chr7:150909200-150921600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:150909200-150922000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:150909200-150922200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr7:150909200-150922200	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr7:150909200-150922200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:150909200-150922200	Strong transcription	Brain Substantia Nigra	brain
33	chr7:150909200-150922200	Strong transcription	GM12878-XiMat	blood
34	chr7:150909200-150922400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:150909200-150922400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:150909200-150922400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:150909200-150922400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr7:150909200-150922400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:150909200-150922600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:150909200-150922600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:150909200-150922600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr7:150909200-150922600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:150909200-150922600	Strong transcription	K562	blood
44	chr7:150909200-150922800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:150909200-150922800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:150909200-150922800	Strong transcription	Fetal Stomach	stomach
47	chr7:150909200-150923000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:150909400-150922000	Strong transcription	Fetal Brain Female	brain
49	chr7:150909400-150922400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:150909400-150922400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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