Variant report

Variant	rs6753616
Chromosome Location	chr2:39037489-39037490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38977053..38979638-chr2:39036320..39038717,3	K562	blood:
2	chr2:39036283..39037932-chr2:39043739..39045764,2	K562	blood:
3	chr2:38975535..38978590-chr2:39035789..39038871,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10168028	1.00[ASN][1000 genomes]
rs10200935	1.00[ASN][1000 genomes]
rs10203173	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390845	1.00[ASN][1000 genomes]
rs13393938	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412656	1.00[ASN][1000 genomes]
rs13418902	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419028	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425948	1.00[ASN][1000 genomes]
rs1541877	1.00[ASN][1000 genomes]
rs17023076	1.00[ASN][1000 genomes]
rs1897327	1.00[ASN][1000 genomes]
rs3099969	1.00[ASN][1000 genomes]
rs3112187	1.00[ASN][1000 genomes]
rs3112190	1.00[ASN][1000 genomes]
rs56350535	0.84[EUR][1000 genomes]
rs6730549	0.92[EUR][1000 genomes]
rs6746931	0.92[EUR][1000 genomes]
rs6760965	1.00[ASN][1000 genomes]
rs72797353	1.00[ASN][1000 genomes]
rs72797362	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv978996	chr2:39037473-39038897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39006000-39037600	Weak transcription	Aorta	Aorta
2	chr2:39006000-39037600	Weak transcription	Gastric	stomach
3	chr2:39006400-39037800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:39006400-39045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:39006400-39085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:39006600-39038200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:39009200-39037600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:39009200-39037600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:39009200-39037600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:39009200-39037600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:39009200-39037600	Weak transcription	NHDF-Ad	bronchial
12	chr2:39009200-39037800	Weak transcription	NHEK	skin
13	chr2:39009200-39042600	Weak transcription	Fetal Kidney	kidney
14	chr2:39009200-39050000	Weak transcription	HMEC	breast
15	chr2:39009200-39052800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:39009400-39037600	Weak transcription	NHLF	lung
17	chr2:39009600-39037600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:39009600-39037600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:39012000-39037600	Weak transcription	Pancreas	Pancrea
20	chr2:39012200-39037600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:39017600-39042200	Weak transcription	Small Intestine	intestine
22	chr2:39018400-39037600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:39019000-39057800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:39021400-39038000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:39021600-39038000	Weak transcription	Colonic Mucosa	Colon
26	chr2:39022000-39042600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:39022000-39066800	Weak transcription	Stomach Mucosa	stomach
28	chr2:39024000-39053000	Weak transcription	Psoas Muscle	Psoas
29	chr2:39025400-39038000	Weak transcription	HUVEC	blood vessel
30	chr2:39025600-39037600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:39025600-39042400	Weak transcription	Hela-S3	cervix
32	chr2:39025600-39042400	Weak transcription	HSMM	muscle
33	chr2:39025800-39037800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:39026000-39037600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:39026600-39079800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:39030000-39040800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:39030200-39037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:39030600-39037600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:39030600-39037600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:39030600-39037600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:39030600-39088200	Weak transcription	Fetal Heart	heart
42	chr2:39032400-39037600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:39032600-39037600	Weak transcription	Right Ventricle	heart
44	chr2:39032800-39038200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:39032800-39072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:39033000-39041400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:39033000-39053000	Weak transcription	Fetal Brain Male	brain
48	chr2:39033200-39037600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:39033200-39037600	Weak transcription	HSMMtube	muscle
50	chr2:39033400-39037600	Weak transcription	Fetal Thymus	thymus

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