Variant report

Variant	rs916299
Chromosome Location	chr6:36737592-36737593
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: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	chr6:36732636..36735426-chr6:36737432..36739720,3	K562	blood:
2	chr6:36733926..36735580-chr6:36737577..36739720,2	K562	blood:
3	chr6:36728360..36730961-chr6:36735132..36738093,3	K562	blood:
4	chr6:36737147..36740325-chr6:36742690..36745905,3	MCF-7	breast:
5	chr6:36735042..36738016-chr6:36756015..36758776,2	K562	blood:
6	chr6:36735765..36740410-chr6:36741274..36745029,7	K562	blood:
7	chr6:36735629..36738074-chr6:36841042..36842717,2	K562	blood:
8	chr6:36573948..36575583-chr6:36736532..36738337,2	K562	blood:
9	chr6:36727502..36729456-chr6:36733982..36738042,3	K562	blood:
10	chr6:36560621..36562357-chr6:36736698..36739584,2	K562	blood:
11	chr6:36735205..36738039-chr6:36795328..36797807,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11755091	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11757521	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11757761	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11760163	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055620	0.85[EUR][1000 genomes]
rs12524933	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16889055	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72855081	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72856406	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs916296	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916300	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916301	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916302	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36722800-36748200	Weak transcription	Fetal Kidney	kidney
2	chr6:36732400-36738600	Enhancers	Fetal Muscle Leg	muscle
3	chr6:36732800-36738800	Enhancers	Primary B cells from cord blood	blood
4	chr6:36732800-36739000	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:36732800-36739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:36732800-36739800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:36733200-36738600	Enhancers	Fetal Muscle Trunk	muscle
8	chr6:36733400-36738600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:36733600-36740000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:36733800-36738600	Enhancers	Left Ventricle	heart
11	chr6:36733800-36739600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:36734000-36737800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:36734000-36739800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:36734400-36737800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:36734400-36740000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:36734400-36744800	Weak transcription	Fetal Intestine Small	intestine
17	chr6:36735400-36739200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:36735600-36739200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:36735800-36738600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:36735800-36740400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:36736000-36738200	Enhancers	Fetal Heart	heart
22	chr6:36736000-36738800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:36736200-36738000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:36736200-36738000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:36736200-36738000	Enhancers	Brain Anterior Caudate	brain
26	chr6:36736200-36738000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:36736200-36738000	Enhancers	Pancreas	Pancrea
28	chr6:36736200-36738200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:36736200-36738400	Enhancers	Right Atrium	heart
30	chr6:36736200-36738400	Enhancers	HMEC	breast
31	chr6:36736200-36738600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:36736200-36738600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr6:36736200-36738800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:36736400-36737600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:36736400-36737600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:36736400-36737600	Enhancers	Brain Cingulate Gyrus	brain
37	chr6:36736400-36737600	Enhancers	Psoas Muscle	Psoas
38	chr6:36736400-36737600	Enhancers	Stomach Smooth Muscle	stomach
39	chr6:36736400-36738000	Enhancers	Brain Angular Gyrus	brain
40	chr6:36736400-36738000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:36736400-36738000	Enhancers	Placenta	Placenta
42	chr6:36736400-36738200	Enhancers	Primary hematopoietic stem cells	blood
43	chr6:36736400-36738400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:36736400-36738400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:36736400-36738400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:36736400-36738400	Enhancers	Duodenum Mucosa	Duodenum
47	chr6:36736400-36738400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr6:36736400-36738600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:36736400-36738600	Enhancers	Right Ventricle	heart
50	chr6:36736400-36738600	Enhancers	NHLF	lung

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