Variant report

Variant	rs1874224
Chromosome Location	chr17:37795660-37795661
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37783631..37786796-chr17:37794221..37796615,3	K562	blood:
2	chr17:37444148..37446120-chr17:37795463..37797673,2	K562	blood:
3	chr17:37793295..37796255-chr17:37843602..37845450,3	K562	blood:
4	chr17:37789742..37792172-chr17:37795424..37797567,2	MCF-7	breast:
5	chr17:37793727..37796192-chr17:37829753..37832726,2	MCF-7	breast:
6	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
7	chr17:37793922..37796197-chr17:37796263..37800246,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131771	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000141736	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1107794	0.83[AFR][1000 genomes]
rs12937003	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2132140	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2952150	0.86[AFR][1000 genomes]
rs33932099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34130088	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs34554211	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59438000	0.92[AFR][1000 genomes]
rs68087665	0.90[AFR][1000 genomes]
rs71369780	0.90[EUR][1000 genomes]
rs8066399	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8075130	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8075931	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37794000-37796000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr17:37794200-37798600	Enhancers	Spleen	Spleen
3	chr17:37794200-37800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:37794200-37801000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:37794400-37796400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr17:37794400-37796600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr17:37794400-37797000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:37794400-37797800	Enhancers	Primary B cells from peripheral blood	blood
9	chr17:37794400-37800000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr17:37794600-37795800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:37794600-37796000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:37794600-37796000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr17:37794600-37796200	Genic enhancers	Fetal Stomach	stomach
14	chr17:37794600-37796400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:37794600-37796400	Genic enhancers	Fetal Muscle Leg	muscle
16	chr17:37794600-37796600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr17:37794600-37796600	Genic enhancers	Rectal Mucosa Donor 31	rectum
18	chr17:37794600-37796800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr17:37794600-37797000	Enhancers	Lung	lung
20	chr17:37794600-37797200	Enhancers	HSMM	muscle
21	chr17:37794600-37797400	Enhancers	Ovary	ovary
22	chr17:37794600-37799000	Genic enhancers	Fetal Intestine Small	intestine
23	chr17:37794600-37801400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:37794600-37801600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:37794600-37801600	Enhancers	Right Ventricle	heart
26	chr17:37794600-37801800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:37794800-37795800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:37794800-37795800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:37794800-37795800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:37794800-37795800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr17:37794800-37795800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:37794800-37795800	Enhancers	Brain Hippocampus Middle	brain
33	chr17:37794800-37795800	Weak transcription	NH-A	brain
34	chr17:37794800-37796000	Enhancers	Brain Germinal Matrix	brain
35	chr17:37794800-37796000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr17:37794800-37796000	Enhancers	Small Intestine	intestine
37	chr17:37794800-37796200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:37794800-37796400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr17:37794800-37796400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:37794800-37796600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:37794800-37796800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr17:37794800-37797000	Enhancers	Stomach Mucosa	stomach
43	chr17:37794800-37797400	Enhancers	Primary B cells from cord blood	blood
44	chr17:37794800-37797400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:37794800-37798000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr17:37794800-37798400	Enhancers	Primary hematopoietic stem cells	blood
47	chr17:37794800-37798600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:37794800-37799400	Weak transcription	Osteobl	bone
49	chr17:37794800-37799800	Enhancers	Liver	Liver
50	chr17:37794800-37800000	Enhancers	Adipose Nuclei	Adipose

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