Variant report

Variant	rs9462216
Chromosome Location	chr6:36720475-36720476
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36716404..36719581-chr6:36720288..36722523,3	MCF-7	breast:
2	chr6:36546135..36548821-chr6:36719778..36721832,2	MCF-7	breast:
3	chr6:36591678..36593501-chr6:36719178..36722554,3	MCF-7	breast:
4	chr6:36584982..36587013-chr6:36719962..36722309,3	MCF-7	breast:
5	chr6:36719279..36721596-chr6:36829791..36832062,2	MCF-7	breast:
6	chr6:36577343..36580259-chr6:36718203..36721182,2	MCF-7	breast:
7	chr6:36572662..36574979-chr6:36718444..36721087,2	K562	blood:
8	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
9	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
10	chr6:36708174..36711394-chr6:36720287..36721932,3	MCF-7	breast:
11	chr6:36714240..36716919-chr6:36719945..36722727,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1894560	0.92[CHD][hapmap]
rs236443	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs236467	0.92[CHD][hapmap]
rs236471	0.92[CHD][hapmap]
rs236472	0.92[CHD][hapmap]
rs3213534	0.84[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs3213535	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs70692	0.92[CHD][hapmap]
rs86702	0.88[CHD][hapmap]
rs86703	0.92[CHD][hapmap]
rs9470386	0.90[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap]
rs9470387	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs9986517	0.95[CHB][hapmap];0.92[CHD][hapmap];0.84[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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv885814	chr6:36704807-36722842	Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9462216	FLJ43093	cis	multi-tissue	Pritchard

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36708400-36720800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr6:36709200-36727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:36717600-36721800	Enhancers	Stomach Mucosa	stomach
4	chr6:36718000-36720600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:36718200-36721000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:36718200-36722200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:36718400-36720600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:36718400-36720600	Enhancers	HMEC	breast
9	chr6:36718400-36721000	Weak transcription	Right Atrium	heart
10	chr6:36718400-36723400	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:36718400-36723400	Enhancers	NHEK	skin
12	chr6:36718600-36722600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:36718600-36723200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:36718600-36724200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:36718600-36725400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:36718600-36725800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:36718600-36726600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:36718800-36723400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:36718800-36726800	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:36718800-36727400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:36718800-36727400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:36719400-36724000	Enhancers	Colonic Mucosa	Colon
23	chr6:36719600-36720600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:36719600-36721400	Enhancers	Fetal Intestine Large	intestine
25	chr6:36719600-36721400	Enhancers	Fetal Intestine Small	intestine
26	chr6:36719600-36721400	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:36719600-36723000	Enhancers	Fetal Muscle Leg	muscle
28	chr6:36719600-36724000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:36719600-36724800	Enhancers	Esophagus	oesophagus
30	chr6:36719600-36725800	Enhancers	HUVEC	blood vessel
31	chr6:36719600-36727000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr6:36719800-36720600	Enhancers	Lung	lung
33	chr6:36719800-36720600	Enhancers	GM12878-XiMat	blood
34	chr6:36719800-36720800	Enhancers	Fetal Thymus	thymus
35	chr6:36719800-36720800	Enhancers	Hela-S3	cervix
36	chr6:36719800-36720800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr6:36719800-36721200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:36719800-36721200	Strong transcription	Fetal Stomach	stomach
39	chr6:36719800-36721800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr6:36719800-36721800	Enhancers	Psoas Muscle	Psoas
41	chr6:36719800-36723000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:36719800-36723000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr6:36719800-36723000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:36719800-36724800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr6:36719800-36725600	Enhancers	Spleen	Spleen
46	chr6:36719800-36726000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:36720000-36720800	Weak transcription	Gastric	stomach
48	chr6:36720000-36721200	Enhancers	Brain Anterior Caudate	brain
49	chr6:36720000-36721600	Enhancers	Small Intestine	intestine
50	chr6:36720000-36722400	Enhancers	Placenta	Placenta

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