Variant report

Variant	rs1150698
Chromosome Location	chr6:28180904-28180905
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28179507..28182174-chr6:28248291..28251754,3	K562	blood:
2	chr6:28180865..28183340-chr6:28228825..28231312,2	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	chr6:27777814..27780215-chr6:28180550..28182448,2	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	chr6:27856891..27858596-chr6:28180873..28182467,2	K562	blood:
11	chr6:28180889..28183569-chr6:28191769..28194377,3	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	chr6:28071044..28072860-chr6:28179957..28182253,2	K562	blood:
17	chr6:28178359..28182415-chr6:28302345..28306363,5	K562	blood:
18	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
19	chr6:28180671..28183155-chr6:28250254..28252159,2	K562	blood:
20	chr6:28126773..28130386-chr6:28178914..28182864,4	K562	blood:
21	chr6:27787686..27790389-chr6:28180656..28184025,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197153	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000218016	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000226314	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000261839	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1150699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11758148	0.88[EUR][1000 genomes]
rs1233664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1233665	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1233666	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16893817	0.96[EUR][1000 genomes]
rs1736890	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1736894	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1778469	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73740584	0.96[EUR][1000 genomes]
rs73740587	0.90[EUR][1000 genomes]
rs7769054	0.88[EUR][1000 genomes]
rs993619	0.88[EUR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1150698	AL022393.7	cis	Thyroid	GTEx
rs1150698	ZNF192P1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28179400-28181000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:28179400-28181200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr6:28179400-28181200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:28179600-28181000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:28179600-28181000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:28179600-28181000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:28179600-28181000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:28179600-28181000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:28179600-28181000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr6:28179600-28181000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr6:28179600-28181000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:28179600-28181000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:28179600-28181200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:28179600-28181200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
15	chr6:28179800-28181000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:28179800-28181000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr6:28179800-28181000	Active TSS	NHLF	lung
18	chr6:28179800-28181200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:28179800-28181400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
20	chr6:28180000-28181000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:28180000-28181000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:28180000-28181000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:28180000-28181000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr6:28180000-28181000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr6:28180000-28181200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr6:28180000-28181200	Bivalent Enhancer	Fetal Heart	heart
27	chr6:28180200-28181000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:28180200-28181000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:28180200-28181000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:28180200-28181000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:28180200-28181000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:28180200-28181000	Active TSS	Right Ventricle	heart
33	chr6:28180200-28181000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
34	chr6:28180200-28181000	Active TSS	A549	lung
35	chr6:28180200-28181000	Active TSS	HSMM	muscle
36	chr6:28180200-28181000	Bivalent/Poised TSS	NHDF-Ad	bronchial
37	chr6:28180200-28181200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:28180200-28181200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:28180200-28181200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:28180200-28181200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr6:28180200-28181200	Active TSS	NHEK	skin
42	chr6:28180400-28181000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr6:28180400-28181000	Bivalent Enhancer	Brain Substantia Nigra	brain
44	chr6:28180400-28181000	Active TSS	Hela-S3	cervix
45	chr6:28180400-28181000	Active TSS	NH-A	brain
46	chr6:28180400-28181000	Active TSS	Osteobl	bone
47	chr6:28180400-28181200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:28180400-28181200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr6:28180400-28181200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:28180400-28181200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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