Variant report

Variant	rs7595101
Chromosome Location	chr2:47173688-47173689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47170300..47176373-chr2:47180929..47185322,6	MCF-7	breast:
2	chr2:47173359..47175767-chr2:47176335..47179186,3	MCF-7	breast:
3	chr2:47165446..47170208-chr2:47173646..47177856,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000272814	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10168851	1.00[ASN][1000 genomes]
rs11887744	1.00[ASN][1000 genomes]
rs13423962	1.00[ASN][1000 genomes]
rs13432713	1.00[ASN][1000 genomes]
rs17035813	0.87[ASN][1000 genomes]
rs17035823	0.87[ASN][1000 genomes]
rs17035919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017797	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28379847	1.00[ASN][1000 genomes]
rs59191871	1.00[ASN][1000 genomes]
rs6714269	1.00[ASN][1000 genomes]
rs7560422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7595101	MCFD2	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169400-47178800	Weak transcription	Ovary	ovary
2	chr2:47169400-47179000	Weak transcription	Gastric	stomach
3	chr2:47169600-47175000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:47169600-47177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:47169600-47177600	Weak transcription	Left Ventricle	heart
6	chr2:47169600-47178800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:47169600-47183600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:47169800-47177600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:47169800-47177600	Weak transcription	Fetal Lung	lung
10	chr2:47169800-47178200	Weak transcription	Fetal Brain Female	brain
11	chr2:47169800-47182000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:47169800-47182200	Weak transcription	Right Ventricle	heart
13	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
14	chr2:47170000-47177000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:47170000-47177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:47170000-47177600	Weak transcription	Esophagus	oesophagus
17	chr2:47170000-47177800	Weak transcription	Liver	Liver
18	chr2:47170000-47177800	Weak transcription	NH-A	brain
19	chr2:47170000-47178800	Weak transcription	HSMMtube	muscle
20	chr2:47170000-47181600	Weak transcription	HUVEC	blood vessel
21	chr2:47170000-47182200	Weak transcription	Psoas Muscle	Psoas
22	chr2:47170200-47177600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:47170200-47181400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:47170400-47177400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:47170600-47178800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:47170800-47176000	Strong transcription	Fetal Stomach	stomach
27	chr2:47170800-47177600	Weak transcription	K562	blood
28	chr2:47170800-47178200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:47170800-47184000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:47171000-47174000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:47171000-47174400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:47171000-47176200	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:47171000-47177600	Weak transcription	Aorta	Aorta
34	chr2:47171000-47177600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:47171000-47178200	Weak transcription	Colonic Mucosa	Colon
36	chr2:47171000-47178200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:47171000-47178400	Weak transcription	Stomach Mucosa	stomach
38	chr2:47171000-47182600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:47171200-47173800	Weak transcription	HSMM	muscle
40	chr2:47171200-47174000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:47171200-47174000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:47171200-47174800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:47171200-47178800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:47171200-47178800	Weak transcription	NHDF-Ad	bronchial
45	chr2:47171200-47179400	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr2:47171200-47182400	Weak transcription	Small Intestine	intestine
47	chr2:47171400-47174000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:47171400-47174600	Strong transcription	Osteobl	bone
49	chr2:47171400-47177200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:47171400-47177400	Weak transcription	Brain Angular Gyrus	brain

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