Variant report

Variant	rs72849210
Chromosome Location	chr6:28180459-28180460
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:20)
LncRNA
region (count:0)
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	chr6:28179507..28182174-chr6:28248291..28251754,3	K562	blood:
2	chr6:28167517..28171168-chr6:28177888..28180588,3	K562	blood:
3	chr6:28134260..28137056-chr6:28179298..28181872,3	K562	blood:
4	chr6:28078804..28081627-chr6:28178928..28180967,2	K562	blood:
5	chr6:28155594..28158275-chr6:28180139..28182137,2	K562	blood:
6	chr6:28122889..28124668-chr6:28176710..28180566,3	K562	blood:
7	chr6:28177601..28182191-chr6:28315411..28319291,5	K562	blood:
8	chr6:28175786..28178014-chr6:28179307..28182825,4	MCF-7	breast:
9	chr6:28128639..28130932-chr6:28178698..28181130,2	K562	blood:
10	chr6:27856295..27859168-chr6:28179121..28180729,2	K562	blood:
11	chr6:28104315..28106178-chr6:28177345..28180593,3	MCF-7	breast:
12	chr6:28179220..28181310-chr6:28303360..28306255,2	MCF-7	breast:
13	chr6:28179297..28181762-chr6:28193422..28195568,2	MCF-7	breast:
14	chr6:28108322..28111152-chr6:28178112..28181694,4	K562	blood:
15	chr6:28134260..28137056-chr6:28179298..28182084,4	K562	blood:
16	chr6:28103775..28107091-chr6:28177064..28180460,3	K562	blood:
17	chr6:28071044..28072860-chr6:28179957..28182253,2	K562	blood:
18	chr6:28178359..28182415-chr6:28302345..28306363,5	K562	blood:
19	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
20	chr6:28126773..28130386-chr6:28178914..28182864,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137185	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000226314	Chromatin interaction
ENSG00000218016	Chromatin interaction
ENSG00000198315	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1150710	1.00[ASN][1000 genomes]
rs11546572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079705	1.00[AFR][1000 genomes]
rs41269285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269287	1.00[ASN][1000 genomes]
rs41269289	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41269291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270579	1.00[AFR][1000 genomes]
rs41270589	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4540253	1.00[AFR][1000 genomes]
rs61744109	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62620226	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844204	1.00[AFR][1000 genomes]
rs72846777	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846788	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846792	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846797	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72846802	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848774	1.00[ASN][1000 genomes]
rs72848776	1.00[ASN][1000 genomes]
rs72848784	1.00[ASN][1000 genomes]
rs72848785	1.00[ASN][1000 genomes]
rs72848793	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72849204	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849206	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849222	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850297	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72850298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72850300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72850302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851105	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851135	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851138	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851139	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851156	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851158	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851160	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851161	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851168	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851173	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72851179	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72851182	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854503	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854506	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854515	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854522	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854525	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854527	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854531	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854533	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72854535	1.00[AFR][1000 genomes]
rs72854536	1.00[AFR][1000 genomes]
rs72854546	1.00[AFR][1000 genomes]
rs72854556	1.00[AFR][1000 genomes]
rs7752415	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883514	chr6:28155418-28185726	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv883515	chr6:28156476-28181675	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv883516	chr6:28156476-28185726	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28179400-28180600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:28179400-28180600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr6:28179400-28180600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:28179400-28181000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:28179400-28181200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:28179400-28181200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:28179600-28180600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr6:28179600-28180800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:28179600-28180800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:28179600-28180800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:28179600-28180800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:28179600-28180800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr6:28179600-28180800	Active TSS	K562	blood
14	chr6:28179600-28181000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:28179600-28181000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:28179600-28181000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:28179600-28181000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:28179600-28181000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:28179600-28181000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr6:28179600-28181000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr6:28179600-28181000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:28179600-28181000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:28179600-28181200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:28179600-28181200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr6:28179800-28180600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:28179800-28180600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr6:28179800-28180800	Bivalent/Poised TSS	HepG2	liver
28	chr6:28179800-28181000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:28179800-28181000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
30	chr6:28179800-28181000	Active TSS	NHLF	lung
31	chr6:28179800-28181200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr6:28179800-28181400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr6:28180000-28180600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:28180000-28180600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr6:28180000-28180600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr6:28180000-28180600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr6:28180000-28180600	Bivalent Enhancer	Fetal Thymus	thymus
38	chr6:28180000-28180600	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr6:28180000-28180600	Enhancers	Spleen	Spleen
40	chr6:28180000-28180800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:28180000-28180800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:28180000-28180800	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr6:28180000-28180800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
44	chr6:28180000-28181000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:28180000-28181000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:28180000-28181000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:28180000-28181000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
48	chr6:28180000-28181000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr6:28180000-28181200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr6:28180000-28181200	Bivalent Enhancer	Fetal Heart	heart

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