Variant report

Variant	rs6467815
Chromosome Location	chr7:138574993-138574994
allele	A/G
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:138574052..138576288-chr7:138630549..138633108,2	MCF-7	breast:
2	chr7:138574364..138576644-chr7:138646563..138648693,2	MCF-7	breast:
3	chr7:138503529..138506242-chr7:138573661..138576363,2	MCF-7	breast:
4	chr7:138574375..138576858-chr7:138634313..138637028,3	MCF-7	breast:
5	chr7:138573348..138576561-chr7:138590294..138593382,4	MCF-7	breast:
6	chr7:138574006..138576565-chr7:138785226..138787889,2	MCF-7	breast:
7	chr7:138574557..138577330-chr7:138680325..138683188,2	MCF-7	breast:
8	chr7:138573010..138575060-chr7:138577930..138580644,2	K562	blood:
9	chr7:138547718..138550858-chr7:138574464..138577508,3	MCF-7	breast:
10	chr7:138574304..138577325-chr7:138635509..138638498,3	MCF-7	breast:
11	chr7:138571012..138574283-chr7:138574631..138577144,3	K562	blood:
12	chr7:138574836..138577165-chr7:138638236..138640923,2	MCF-7	breast:
13	chr7:138574147..138576093-chr7:139023715..139026010,2	K562	blood:
14	chr7:138574944..138576890-chr7:138583632..138586294,2	MCF-7	breast:
15	chr7:138574313..138575904-chr7:138707158..138708919,2	MCF-7	breast:
16	chr7:138567501..138571817-chr7:138572093..138577716,5	MCF-7	breast:
17	chr7:138574227..138577387-chr7:138719350..138722368,3	MCF-7	breast:
18	chr7:138574395..138575984-chr7:138718958..138720916,2	K562	blood:
19	chr7:138573612..138578599-chr7:138661301..138667603,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146858	Chromatin interaction
ENSG00000164898	Chromatin interaction
ENSG00000122778	Chromatin interaction
ENSG00000146963	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6972391	0.81[EUR][1000 genomes]
rs6974263	0.91[TSI][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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1801348	chr7:138571311-138581979	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6467815	MGAM	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
3	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:138549200-138596800	Weak transcription	Aorta	Aorta
5	chr7:138553000-138592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:138554200-138581600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:138555400-138575400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:138555600-138578800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:138556200-138575400	Weak transcription	Ovary	ovary
10	chr7:138556200-138578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:138558600-138575000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:138558600-138575600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:138561400-138583000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:138561800-138577200	Weak transcription	HSMM	muscle
15	chr7:138562000-138575000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:138562000-138598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:138562000-138598200	Weak transcription	HMEC	breast
18	chr7:138562600-138580600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:138566000-138575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:138566000-138583600	Weak transcription	Lung	lung
21	chr7:138566200-138575200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:138566200-138575400	Weak transcription	Fetal Intestine Small	intestine
23	chr7:138566200-138578800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:138566200-138588200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:138566200-138606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:138566400-138575000	Weak transcription	Pancreas	Pancrea
27	chr7:138566400-138575400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:138566400-138575800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:138566400-138577600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:138566400-138578200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:138566400-138609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:138566600-138575000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:138566600-138575800	Weak transcription	Left Ventricle	heart
34	chr7:138566600-138576600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:138566600-138576600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:138566600-138577600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:138566600-138592000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:138567200-138575000	Weak transcription	Fetal Brain Male	brain
39	chr7:138570600-138592600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:138570800-138575200	Enhancers	HepG2	liver
41	chr7:138570800-138575600	Weak transcription	Fetal Brain Female	brain
42	chr7:138571200-138592600	Weak transcription	Brain Anterior Caudate	brain
43	chr7:138571600-138575400	Weak transcription	Adipose Nuclei	Adipose
44	chr7:138571600-138576000	Weak transcription	Osteobl	bone
45	chr7:138571600-138583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:138571600-138592000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:138571800-138575800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:138572000-138586600	Weak transcription	Dnd41	blood
49	chr7:138572200-138575000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:138572400-138575600	Weak transcription	Fetal Thymus	thymus

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