Variant report

Variant	rs7748377
Chromosome Location	chr6:44203834-44203835
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44193349..44195595-chr6:44198490..44203873,4	MCF-7	breast:
2	chr6:44139023..44142178-chr6:44202710..44207835,5	K562	blood:
3	chr6:44137717..44140173-chr6:44201270..44205583,3	MCF-7	breast:
4	chr6:44199025..44201599-chr6:44203689..44206993,5	MCF-7	breast:
5	chr6:44202199..44204856-chr6:44206389..44207933,2	MCF-7	breast:
6	chr6:44052482..44055153-chr6:44202831..44205817,2	K562	blood:
7	chr6:44184911..44192138-chr6:44201380..44207306,8	MCF-7	breast:
8	chr6:44118511..44121325-chr6:44203702..44206845,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3734704	0.88[AFR][1000 genomes]
rs6902226	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6929249	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7738226	0.85[ASN][1000 genomes]
rs834576	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv981326	chr6:44201100-44205684	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44191600-44205000	Weak transcription	Small Intestine	intestine
2	chr6:44192200-44204800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:44192400-44205000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:44193200-44204800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:44199800-44205200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:44200000-44204800	Enhancers	Liver	Liver
7	chr6:44200400-44204200	Genic enhancers	Fetal Stomach	stomach
8	chr6:44200600-44204200	Enhancers	Brain Hippocampus Middle	brain
9	chr6:44201000-44205000	Enhancers	HMEC	breast
10	chr6:44201200-44204200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:44201200-44204800	Weak transcription	GM12878-XiMat	blood
12	chr6:44201200-44205000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:44201400-44204600	Enhancers	Hela-S3	cervix
14	chr6:44201600-44204200	Genic enhancers	H1 Cell Line	embryonic stem cell
15	chr6:44201600-44204800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:44201600-44204800	Weak transcription	Lung	lung
17	chr6:44201600-44205000	Weak transcription	Spleen	Spleen
18	chr6:44201800-44204000	Enhancers	Fetal Heart	heart
19	chr6:44201800-44204000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:44201800-44204200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:44201800-44204800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:44201800-44204800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:44201800-44205000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:44202200-44204600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:44202400-44204800	Weak transcription	Primary B cells from cord blood	blood
26	chr6:44202400-44204800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:44202400-44204800	Weak transcription	Placenta	Placenta
28	chr6:44202400-44205000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:44202600-44204000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:44202600-44204000	Strong transcription	Thymus	Thymus
31	chr6:44202600-44204200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:44202600-44204600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:44202600-44204800	Weak transcription	Psoas Muscle	Psoas
34	chr6:44202600-44204800	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:44202600-44205000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:44202600-44205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:44202600-44205000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:44202600-44205000	Weak transcription	Esophagus	oesophagus
39	chr6:44202600-44205000	Weak transcription	Gastric	stomach
40	chr6:44202600-44205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:44202600-44205000	Weak transcription	Dnd41	blood
42	chr6:44202800-44204000	Genic enhancers	Adipose Nuclei	Adipose
43	chr6:44202800-44204000	Genic enhancers	A549	lung
44	chr6:44202800-44204200	Genic enhancers	HSMM	muscle
45	chr6:44202800-44204400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:44202800-44204600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:44202800-44205000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:44203000-44204000	Genic enhancers	Left Ventricle	heart
49	chr6:44203000-44204200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:44203000-44204200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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