Variant report

Variant	rs7796006
Chromosome Location	chr7:99648606-99648607
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99618852..99620390-chr7:99647489..99649484,2	MCF-7	breast:
2	chr7:99613224..99616757-chr7:99646903..99650456,6	K562	blood:
3	chr7:99612024..99615373-chr7:99646672..99650813,5	MCF-7	breast:
4	chr7:99645911..99648901-chr7:99677073..99680526,5	MCF-7	breast:
5	chr7:99587259..99592938-chr7:99645564..99652306,10	MCF-7	breast:
6	chr7:99614422..99616781-chr7:99647909..99649489,3	K562	blood:
7	chr7:99647023..99648949-chr7:99679217..99680887,2	K562	blood:
8	chr7:99643901..99648827-chr7:99678011..99681180,5	MCF-7	breast:
9	chr7:99645798..99648883-chr7:99696634..99699359,3	MCF-7	breast:
10	chr7:99646221..99648949-chr7:99678840..99680973,5	K562	blood:
11	chr7:99645952..99651427-chr7:99695296..99699701,5	K562	blood:
12	chr7:99647658..99649972-chr7:99695317..99698308,2	K562	blood:
13	chr7:99516710..99519672-chr7:99647513..99649327,2	MCF-7	breast:
14	chr7:99643907..99646572-chr7:99647724..99651166,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166526	Chromatin interaction
ENSG00000235713	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000146833	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11558475	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11558476	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532238	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4308665	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4421299	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4727445	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55969052	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56054049	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60697181	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67091024	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67110214	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68038211	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72615158	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7780686	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7803317	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs941289	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7796006	LOC389541	Cis_1M	lymphoblastoid	RTeQTL
rs7796006	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs7796006	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs7796006	TRIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99648000-99648800	Flanking Active TSS	Placenta	Placenta
2	chr7:99648000-99649400	Enhancers	Fetal Brain Male	brain
3	chr7:99648000-99654600	Weak transcription	Ovary	ovary
4	chr7:99648200-99648800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:99648200-99654400	Weak transcription	Primary T cells from cord blood	blood
6	chr7:99648200-99654600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:99648200-99654600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:99648200-99654600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:99648200-99654600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:99648200-99654600	Weak transcription	Aorta	Aorta
11	chr7:99648200-99654600	Weak transcription	Esophagus	oesophagus
12	chr7:99648200-99654600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:99648400-99648800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:99648400-99648800	Enhancers	Brain Hippocampus Middle	brain
15	chr7:99648400-99648800	Enhancers	Fetal Brain Female	brain
16	chr7:99648400-99649000	Enhancers	Fetal Muscle Trunk	muscle
17	chr7:99648400-99649200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:99648400-99649200	Weak transcription	Fetal Intestine Small	intestine
19	chr7:99648400-99649200	Enhancers	Stomach Smooth Muscle	stomach
20	chr7:99648400-99649400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:99648400-99649400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:99648400-99649400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:99648400-99649400	Enhancers	Fetal Intestine Large	intestine
24	chr7:99648400-99649400	Weak transcription	HSMMtube	muscle
25	chr7:99648400-99649600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:99648400-99649600	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:99648400-99649800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:99648400-99649800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:99648400-99649800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:99648400-99649800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:99648400-99650600	Weak transcription	Brain Anterior Caudate	brain
32	chr7:99648400-99650600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:99648400-99650800	Weak transcription	Brain Angular Gyrus	brain
34	chr7:99648400-99651000	Enhancers	Liver	Liver
35	chr7:99648400-99651200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:99648400-99653800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:99648400-99654000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:99648400-99654200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:99648400-99654400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:99648400-99654400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:99648400-99654400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:99648400-99654400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:99648400-99654400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:99648400-99654400	Weak transcription	Fetal Lung	lung
45	chr7:99648400-99654400	Weak transcription	A549	lung
46	chr7:99648400-99654400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:99648400-99654600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:99648400-99654600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:99648400-99654600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:99648400-99654600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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