Variant report

Variant	rs2531821
Chromosome Location	chr6:28457605-28457606
allele	G/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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28457050..28459909-chr6:28532442..28533968,2	K562	blood:
2	chr6:28446745..28449657-chr6:28455146..28458037,3	MCF-7	breast:
3	chr6:27858756..27861228-chr6:28455818..28458096,2	K562	blood:
4	chr6:28372326..28375748-chr6:28455628..28458983,4	K562	blood:
5	chr6:28456446..28459153-chr6:28555326..28557057,2	MCF-7	breast:
6	chr6:28457438..28459900-chr6:28562762..28564476,2	K562	blood:
7	chr6:28184719..28186760-chr6:28457419..28459173,2	K562	blood:
8	chr6:28457551..28459368-chr6:28582863..28585503,2	K562	blood:
9	chr6:28187359..28189911-chr6:28455377..28457870,2	K562	blood:
10	chr6:28451721..28454293-chr6:28455250..28457902,2	MCF-7	breast:
11	chr6:28455757..28458631-chr6:28484303..28486741,3	K562	blood:
12	chr6:28457441..28459439-chr6:28472256..28474388,2	K562	blood:
13	chr6:28456451..28458356-chr6:28686774..28688606,2	K562	blood:
14	chr6:28456855..28459742-chr6:28553402..28555898,3	MCF-7	breast:
15	chr6:28364266..28370257-chr6:28453674..28463075,14	K562	blood:
16	chr6:28457372..28460097-chr6:28460579..28463613,3	MCF-7	breast:
17	chr6:28457285..28457884-chr6:33238933..33239438,2	NB4	blood:
18	chr6:28188045..28189911-chr6:28456370..28458760,2	K562	blood:
19	chr6:28302607..28305484-chr6:28456886..28458862,3	K562	blood:
20	chr6:28192543..28195348-chr6:28455724..28457783,2	K562	blood:
21	chr6:28455084..28458229-chr6:28499553..28502958,3	K562	blood:
22	chr6:28364227..28369783-chr6:28455559..28460332,7	K562	blood:
23	chr6:27858485..27861228-chr6:28455818..28458807,3	K562	blood:
24	chr6:28457570..28459445-chr6:28579762..28581303,2	K562	blood:
25	chr6:26124485..26126555-chr6:28456975..28458893,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196331	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000232040	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000246350	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2079705	0.83[EUR][1000 genomes]
rs2394101	0.89[EUR][1000 genomes]
rs2531818	0.90[EUR][1000 genomes]
rs41270579	0.89[EUR][1000 genomes]
rs41270589	0.81[EUR][1000 genomes]
rs4540253	0.89[EUR][1000 genomes]
rs72844212	0.89[EUR][1000 genomes]
rs72844218	0.81[EUR][1000 genomes]
rs72844220	0.81[EUR][1000 genomes]
rs72844223	0.89[EUR][1000 genomes]
rs72844224	0.87[EUR][1000 genomes]
rs72844225	0.87[EUR][1000 genomes]
rs72844226	0.87[EUR][1000 genomes]
rs72854542	0.89[EUR][1000 genomes]
rs72854546	0.89[EUR][1000 genomes]
rs72854553	0.89[EUR][1000 genomes]
rs72854556	0.89[EUR][1000 genomes]
rs7770236	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28456400-28457800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:28456400-28458000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr6:28456400-28458200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:28456400-28458200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:28456400-28458400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:28456400-28459400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:28456400-28460200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:28456600-28458200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:28456600-28458200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:28456600-28458400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:28456600-28458400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:28456600-28458400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:28456600-28458400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:28456600-28458600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:28456600-28458600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:28456600-28458600	Active TSS	Ovary	ovary
17	chr6:28456600-28458800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:28456600-28458800	Active TSS	A549	lung
19	chr6:28456600-28458800	Active TSS	GM12878-XiMat	blood
20	chr6:28456800-28457800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:28456800-28457800	Active TSS	Brain Anterior Caudate	brain
22	chr6:28456800-28457800	Active TSS	NH-A	brain
23	chr6:28456800-28458000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:28456800-28458000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:28456800-28458200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:28456800-28458200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:28456800-28458200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:28456800-28458200	Active TSS	NHLF	lung
29	chr6:28456800-28458400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:28456800-28458400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:28456800-28458400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:28456800-28458400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr6:28456800-28458400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
34	chr6:28456800-28458400	Active TSS	K562	blood
35	chr6:28456800-28458400	Active TSS	Osteobl	bone
36	chr6:28456800-28458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:28456800-28458600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:28456800-28458600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:28456800-28458600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:28456800-28458600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:28456800-28458600	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr6:28456800-28458600	Active TSS	NHDF-Ad	bronchial
43	chr6:28456800-28458800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:28457000-28457800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr6:28457000-28457800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr6:28457000-28457800	Active TSS	Placenta	Placenta
47	chr6:28457000-28457800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:28457000-28457800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr6:28457000-28458000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr6:28457000-28458000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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