Variant report

Variant	rs2487157
Chromosome Location	chr7:150908266-150908267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150900947..150904902-chr7:150906819..150911270,6	MCF-7	breast:
2	chr7:150888866..150891539-chr7:150907679..150909956,2	K562	blood:
3	chr7:150905577..150911406-chr7:150912646..150916801,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183016	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12538502	0.86[ASN][1000 genomes]
rs2045465	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219229	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219233	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2252694	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608289	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608290	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792431	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2792433	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3789823	0.81[CHB][hapmap];0.84[CHD][hapmap];0.90[YRI][hapmap]
rs3807386	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3807387	0.89[ASW][hapmap];0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4236430	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs4726007	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6464133	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6958591	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	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
5	nsv971515	chr7:150905324-150908880	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2487157	ABCF2	cis	Thyroid	GTEx
rs2487157	GIMAP8	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150885000-150910000	Weak transcription	Right Atrium	heart
2	chr7:150899000-150909600	Weak transcription	Aorta	Aorta
3	chr7:150901800-150910000	Weak transcription	Ovary	ovary
4	chr7:150902000-150910200	Weak transcription	Right Ventricle	heart
5	chr7:150902000-150910400	Weak transcription	Pancreas	Pancrea
6	chr7:150903000-150908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:150903200-150909600	Weak transcription	Spleen	Spleen
8	chr7:150904000-150909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:150904400-150909600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:150904600-150909600	Weak transcription	Psoas Muscle	Psoas
11	chr7:150904600-150909600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:150904800-150908600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:150904800-150908800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:150904800-150909200	Weak transcription	GM12878-XiMat	blood
15	chr7:150904800-150909400	Weak transcription	Fetal Thymus	thymus
16	chr7:150905000-150908400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:150905000-150910000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:150905000-150910000	Weak transcription	Esophagus	oesophagus
19	chr7:150905000-150910800	Weak transcription	Colonic Mucosa	Colon
20	chr7:150905200-150908600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:150905200-150909200	Weak transcription	K562	blood
22	chr7:150905200-150909600	Weak transcription	Gastric	stomach
23	chr7:150905200-150910000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:150905200-150910200	Weak transcription	A549	lung
25	chr7:150905400-150908800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:150905400-150909000	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:150905400-150909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:150905400-150909600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:150905400-150912000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:150905400-150912000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:150905600-150909200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:150905600-150910000	Weak transcription	Brain Germinal Matrix	brain
33	chr7:150905600-150910000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:150905600-150911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:150905800-150908800	Weak transcription	Primary B cells from cord blood	blood
36	chr7:150905800-150908800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:150905800-150909000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:150905800-150909200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:150905800-150909200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:150905800-150909800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:150905800-150909800	Weak transcription	HMEC	breast
42	chr7:150905800-150910200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:150905800-150910200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:150905800-150910200	Weak transcription	HepG2	liver
45	chr7:150905800-150910800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:150906000-150909000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:150906000-150909200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:150906000-150909200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:150906000-150909400	Weak transcription	Fetal Brain Female	brain
50	chr7:150906000-150909600	Weak transcription	Primary monocytes fromperipheralblood	blood

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