Variant report

Variant	rs55823111
Chromosome Location	chr6:44206267-44206268
allele	C/G
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44123357..44125146-chr6:44203946..44206894,2	K562	blood:
2	chr6:44138703..44140706-chr6:44205999..44208385,2	MCF-7	breast:
3	chr6:44205429..44206336-chr6:44213621..44215036,3	K562	blood:
4	chr6:44140149..44141154-chr6:44205370..44206308,6	MCF-7	breast:
5	chr6:43737632..43739680-chr6:44205540..44207219,3	MCF-7	breast:
6	chr6:44139023..44142178-chr6:44202710..44207835,5	K562	blood:
7	chr6:44077806..44078726-chr6:44204971..44206412,5	MCF-7	breast:
8	chr6:44077806..44078726-chr6:44204971..44206412,4	MCF-7	breast:
9	chr6:44079762..44081284-chr6:44204790..44206941,2	K562	blood:
10	chr6:44140078..44141155-chr6:44205142..44206527,19	K562	blood:
11	chr6:44120961..44123352-chr6:44203847..44206405,2	MCF-7	breast:
12	chr6:44199025..44201599-chr6:44203689..44206993,5	MCF-7	breast:
13	chr6:44094095..44096990-chr6:44204419..44207697,4	MCF-7	breast:
14	chr6:44093264..44095446-chr6:44204345..44207044,2	K562	blood:
15	chr6:44191141..44192105-chr6:44205563..44206387,6	MCF-7	breast:
16	chr6:44188998..44189909-chr6:44204941..44206651,4	K562	blood:
17	chr6:44064308..44065554-chr6:44205339..44206301,3	MCF-7	breast:
18	chr6:44191184..44192024-chr6:44205755..44206387,3	MCF-7	breast:
19	chr6:44184911..44192138-chr6:44201380..44207306,8	MCF-7	breast:
20	chr6:44118511..44121325-chr6:44203702..44206845,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC29A1-2	chr6:44204713-44208319	NONHSAT112955

No data

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000137216	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12202977	0.92[EUR][1000 genomes]
rs12216216	0.92[EUR][1000 genomes]
rs1570920	0.90[EUR][1000 genomes]
rs3187	0.87[EUR][1000 genomes]
rs3188	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757280	0.92[EUR][1000 genomes]
rs3757285	0.92[EUR][1000 genomes]
rs3757286	0.92[EUR][1000 genomes]
rs9367190	0.90[EUR][1000 genomes]
rs9381298	0.92[EUR][1000 genomes]
rs9381303	0.90[EUR][1000 genomes]
rs9394994	0.93[EUR][1000 genomes]
rs9394995	0.92[EUR][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	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44204600-44207400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:44205000-44206400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr6:44205000-44206400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr6:44205600-44206400	Enhancers	HUVEC	blood vessel
5	chr6:44205800-44206400	Enhancers	Fetal Heart	heart
6	chr6:44205800-44212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:44205800-44213200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:44206000-44206400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:44206000-44206400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:44206000-44206400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:44206000-44206400	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:44206000-44206400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:44206000-44206400	Enhancers	Colonic Mucosa	Colon
14	chr6:44206000-44206400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr6:44206000-44206400	Weak transcription	Psoas Muscle	Psoas
16	chr6:44206000-44206400	Flanking Active TSS	Hela-S3	cervix
17	chr6:44206000-44206600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:44206000-44206600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:44206000-44206600	Genic enhancers	Thymus	Thymus
20	chr6:44206000-44206800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:44206000-44206800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:44206000-44206800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr6:44206000-44206800	Enhancers	Fetal Intestine Large	intestine
24	chr6:44206000-44206800	Enhancers	Fetal Intestine Small	intestine
25	chr6:44206000-44206800	Genic enhancers	Fetal Thymus	thymus
26	chr6:44206000-44207000	Enhancers	A549	lung
27	chr6:44206000-44207200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:44206000-44207400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:44206000-44207400	Enhancers	HMEC	breast
30	chr6:44206000-44212800	Weak transcription	Right Ventricle	heart
31	chr6:44206000-44213200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:44206000-44213400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:44206000-44213400	Weak transcription	Right Atrium	heart
34	chr6:44206200-44206400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr6:44206200-44206400	Enhancers	Adipose Nuclei	Adipose
36	chr6:44206200-44206400	Enhancers	Brain Substantia Nigra	brain
37	chr6:44206200-44206400	Enhancers	Colon Smooth Muscle	Colon
38	chr6:44206200-44206400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:44206200-44206400	Enhancers	Stomach Mucosa	stomach
40	chr6:44206200-44206400	Enhancers	Dnd41	blood
41	chr6:44206200-44206400	Enhancers	Osteobl	bone
42	chr6:44206200-44206600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:44206200-44206600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:44206200-44206600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:44206200-44206600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:44206200-44206600	Enhancers	Brain Angular Gyrus	brain
47	chr6:44206200-44206600	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:44206200-44206600	Enhancers	Brain Hippocampus Middle	brain
49	chr6:44206200-44206600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:44206200-44206600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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