Variant report

Variant	rs7699431
Chromosome Location	chr4:87947946-87947947
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87924739..87931529-chr4:87944789..87955863,16	K562	blood:
2	chr4:87945681..87948538-chr4:88025074..88026618,2	MCF-7	breast:
3	chr4:87855405..87858251-chr4:87947004..87950108,3	K562	blood:
4	chr4:87946350..87948006-chr4:87951593..87953106,2	MCF-7	breast:
5	chr4:87946215..87948894-chr4:88011118..88013120,2	MCF-7	breast:
6	chr4:87938501..87940925-chr4:87946524..87948135,2	K562	blood:
7	chr4:87855430..87859926-chr4:87946655..87949706,6	MCF-7	breast:
8	chr4:87944178..87948145-chr4:87950244..87953545,6	K562	blood:
9	chr4:87944954..87950016-chr4:87950159..87955839,10	K562	blood:
10	chr4:87926004..87930134-chr4:87942000..87950091,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11936392	0.86[YRI][hapmap]
rs13109353	1.00[AMR][1000 genomes]
rs2594275	1.00[AMR][1000 genomes]
rs6811156	1.00[AMR][1000 genomes]
rs6815870	1.00[AMR][1000 genomes]
rs6840031	1.00[AMR][1000 genomes]
rs6846015	1.00[AMR][1000 genomes]
rs6857047	1.00[AMR][1000 genomes]
rs7671962	1.00[AMR][1000 genomes]
rs7692406	0.82[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7699431	HSD17B11	cis	lymphoblastoid	seeQTL
rs7699431	TNFRSF1A	trans	lymphoblastoid	seeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87930600-87950000	Weak transcription	Fetal Stomach	stomach
2	chr4:87935600-87950200	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:87935800-87951000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:87936000-87950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:87937000-87950400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:87937000-87951800	Weak transcription	NHEK	skin
7	chr4:87937000-87952000	Weak transcription	HMEC	breast
8	chr4:87937600-87949800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:87939400-87950800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:87939600-87950000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:87939600-87950400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:87940600-87950600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:87942600-87950400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:87943000-87948800	Enhancers	Small Intestine	intestine
15	chr4:87943200-87951400	Weak transcription	Fetal Brain Male	brain
16	chr4:87944000-87949200	Enhancers	Ovary	ovary
17	chr4:87944200-87948000	Enhancers	Psoas Muscle	Psoas
18	chr4:87944200-87949000	Enhancers	Liver	Liver
19	chr4:87944200-87951800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:87944200-87951800	Enhancers	K562	blood
21	chr4:87944200-87953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:87944200-87960800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:87944400-87948600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:87944600-87948600	Enhancers	Adipose Nuclei	Adipose
25	chr4:87944800-87948000	Enhancers	HepG2	liver
26	chr4:87944800-87948600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:87944800-87948800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:87944800-87948800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:87944800-87948800	Enhancers	Stomach Mucosa	stomach
30	chr4:87944800-87949200	Enhancers	Right Ventricle	heart
31	chr4:87944800-87961600	Enhancers	Fetal Heart	heart
32	chr4:87945000-87948600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:87945000-87951800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:87945200-87948000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:87945200-87948000	Enhancers	Left Ventricle	heart
36	chr4:87945200-87948600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:87945200-87948600	Enhancers	Spleen	Spleen
38	chr4:87945400-87950000	Weak transcription	Aorta	Aorta
39	chr4:87945400-87951200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:87945600-87948400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:87945600-87952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:87945800-87948400	Enhancers	HUVEC	blood vessel
43	chr4:87945800-87949200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:87946000-87948400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:87946000-87948400	Enhancers	Brain Hippocampus Middle	brain
46	chr4:87946000-87948600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr4:87946000-87948800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:87946200-87948400	Enhancers	Fetal Intestine Large	intestine
49	chr4:87946200-87948600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:87946200-87948600	Enhancers	HUES48 Cell Line	embryonic stem cell

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