Variant report

Variant	rs2414
Chromosome Location	chr7:150910642-150910643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150910002..150911810-chr7:150927471..150930070,2	MCF-7	breast:
2	chr7:150910425..150912295-chr7:150932793..150934367,2	MCF-7	breast:
3	chr7:150910419..150913240-chr7:151061501..151064470,2	K562	blood:
4	chr7:150900947..150904902-chr7:150906819..150911270,6	MCF-7	breast:
5	chr7:150910348..150912722-chr7:150922235..150925748,3	MCF-7	breast:
6	chr7:150908780..150913504-chr7:150916695..150920010,4	MCF-7	breast:
7	chr7:150756323..150758655-chr7:150909019..150911809,2	K562	blood:
8	chr7:150905577..150911406-chr7:150912646..150916801,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164889	Chromatin interaction
ENSG00000033100	Chromatin interaction
ENSG00000183016	Chromatin interaction
ENSG00000033050	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1870238	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2242141	0.88[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2256864	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2429248	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2446065	0.92[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2487152	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2487154	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2487155	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2608288	0.81[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608292	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2608293	0.85[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2792434	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2792435	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2792436	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3800792	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3800793	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4725398	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4726009	0.88[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6464134	0.88[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6949587	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs758249	0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs897917	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs921987	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2414	ABCF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150905000-150910800	Weak transcription	Colonic Mucosa	Colon
2	chr7:150905400-150912000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:150905400-150912000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:150905600-150911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:150905800-150910800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:150906000-150910800	Weak transcription	NHDF-Ad	bronchial
7	chr7:150906000-150911200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:150906000-150911800	Weak transcription	Fetal Lung	lung
9	chr7:150906600-150910800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:150906800-150912000	Weak transcription	Fetal Brain Male	brain
11	chr7:150907200-150911600	Weak transcription	HSMMtube	muscle
12	chr7:150907600-150910800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:150907600-150910800	Weak transcription	HSMM	muscle
14	chr7:150907600-150911400	Weak transcription	Hela-S3	cervix
15	chr7:150907600-150922600	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:150907800-150922200	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:150908000-150911400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:150908000-150922600	Strong transcription	Brain Cingulate Gyrus	brain
19	chr7:150908000-150922800	Strong transcription	Brain Hippocampus Middle	brain
20	chr7:150908200-150911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:150908200-150922600	Strong transcription	Primary T cells from cord blood	blood
22	chr7:150908400-150911200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:150908400-150912200	Weak transcription	Fetal Kidney	kidney
24	chr7:150908400-150922200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr7:150908400-150923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:150908600-150922200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:150908600-150922400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:150908600-150922400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:150908800-150917000	Strong transcription	NHEK	skin
30	chr7:150908800-150920800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:150908800-150921800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:150908800-150922000	Strong transcription	Primary B cells from cord blood	blood
33	chr7:150908800-150922200	Strong transcription	Lung	lung
34	chr7:150908800-150922400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:150908800-150922400	Strong transcription	Fetal Intestine Small	intestine
36	chr7:150908800-150922600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:150908800-150922600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:150908800-150922800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:150908800-150923000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:150908800-150923000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:150909000-150912000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:150909000-150922200	Strong transcription	Thymus	Thymus
43	chr7:150909000-150922400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:150909000-150922600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:150909000-150923000	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:150909200-150921600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:150909200-150922000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:150909200-150922200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr7:150909200-150922200	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr7:150909200-150922200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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