Variant report

Variant	rs3738198
Chromosome Location	chr1:211749734-211749735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211715152..211718143-chr1:211748506..211750792,2	K562	blood:
2	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
3	chr1:211686187..211688121-chr1:211747912..211750697,2	K562	blood:

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11119772	0.92[JPT][hapmap]
rs11553543	0.92[AFR][1000 genomes]
rs12091351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562288	1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs17017739	0.91[JPT][hapmap]
rs17017761	0.84[AFR][1000 genomes]
rs17017782	0.92[JPT][hapmap]
rs17838268	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278652	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60420078	0.82[ASN][1000 genomes]
rs61336072	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61632665	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6676167	0.81[ASN][1000 genomes]
rs73073202	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73075103	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075106	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075108	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73075115	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73075131	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7515127	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7530862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531277	0.85[AFR][1000 genomes]
rs7543376	0.92[JPT][hapmap]

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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211745800-211749800	Weak transcription	Colonic Mucosa	Colon
2	chr1:211745800-211750800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:211747000-211749800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:211747000-211750600	Weak transcription	Psoas Muscle	Psoas
5	chr1:211747200-211749800	Weak transcription	Fetal Brain Male	brain
6	chr1:211747200-211749800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:211747200-211750800	Weak transcription	Spleen	Spleen
8	chr1:211747400-211750800	Weak transcription	Esophagus	oesophagus
9	chr1:211747600-211750600	Weak transcription	Right Ventricle	heart
10	chr1:211748000-211750400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:211748200-211750600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:211748400-211749800	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:211748400-211750000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:211748400-211750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:211748600-211749800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:211748600-211749800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
17	chr1:211748600-211753200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:211748800-211749800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:211748800-211749800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:211748800-211749800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:211748800-211749800	Genic enhancers	Ovary	ovary
22	chr1:211748800-211750000	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr1:211748800-211750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:211748800-211751000	Active TSS	Right Atrium	heart
25	chr1:211748800-211751400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:211749000-211750000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:211749000-211750400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:211749000-211750400	Weak transcription	Thymus	Thymus
29	chr1:211749000-211750600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:211749000-211750600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:211749000-211750800	Active TSS	Fetal Intestine Small	intestine
32	chr1:211749000-211753400	Active TSS	Aorta	Aorta
33	chr1:211749000-211753400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:211749200-211749800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:211749200-211749800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:211749200-211749800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:211749200-211749800	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:211749200-211750400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr1:211749200-211750800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:211749400-211749800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
41	chr1:211749400-211749800	Active TSS	Primary T cells from cord blood	blood
42	chr1:211749400-211749800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:211749400-211749800	Enhancers	Colon Smooth Muscle	Colon
44	chr1:211749400-211749800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:211749400-211749800	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:211749400-211750000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:211749400-211750000	Transcr. at gene 5' and 3'	HSMM	muscle
48	chr1:211749400-211750200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:211749400-211750200	Weak transcription	Brain Substantia Nigra	brain
50	chr1:211749400-211750400	Active TSS	Fetal Brain Female	brain

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