Variant report

Variant	rs60854312
Chromosome Location	chr6:33538348-33538349
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33532988..33536659-chr6:33537187..33540995,4	K562	blood:
2	chr6:33527175..33529562-chr6:33537058..33539940,2	K562	blood:
3	chr6:33537717..33540253-chr6:33551095..33553614,2	K562	blood:
4	chr6:33536613..33539410-chr6:33637420..33640374,2	K562	blood:
5	chr6:33375962..33378534-chr6:33537596..33540481,2	K562	blood:
6	chr6:33392929..33396981-chr6:33537285..33540754,6	MCF-7	breast:
7	chr6:33533870..33536735-chr6:33537311..33539466,2	MCF-7	breast:
8	chr6:33538231..33539799-chr6:33543255..33545002,2	K562	blood:
9	chr6:33257633..33260307-chr6:33537052..33539891,2	K562	blood:
10	chr6:33532988..33535545-chr6:33537116..33538687,2	K562	blood:
11	chr6:33533712..33536819-chr6:33537641..33540205,3	MCF-7	breast:
12	chr6:33241430..33244166-chr6:33536289..33538432,2	K562	blood:
13	chr6:33537234..33540947-chr6:33547325..33549534,4	K562	blood:
14	chr6:33537267..33540253-chr6:33551095..33553614,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204188	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000030110	Chromatin interaction
ENSG00000112511	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10214667	1.00[EUR][1000 genomes]
rs11967163	1.00[EUR][1000 genomes]
rs11970477	1.00[EUR][1000 genomes]
rs28488940	1.00[EUR][1000 genomes]
rs28589816	1.00[EUR][1000 genomes]
rs28868935	1.00[EUR][1000 genomes]
rs41271255	1.00[EUR][1000 genomes]
rs55897728	1.00[EUR][1000 genomes]
rs56085633	1.00[EUR][1000 genomes]
rs56122765	1.00[EUR][1000 genomes]
rs56124649	1.00[EUR][1000 genomes]
rs56148814	1.00[EUR][1000 genomes]
rs56226140	1.00[EUR][1000 genomes]
rs56250036	1.00[EUR][1000 genomes]
rs56740052	0.91[AFR][1000 genomes]
rs56875788	1.00[EUR][1000 genomes]
rs57104544	1.00[EUR][1000 genomes]
rs57290518	1.00[EUR][1000 genomes]
rs57877240	1.00[EUR][1000 genomes]
rs58043092	1.00[EUR][1000 genomes]
rs58058146	1.00[EUR][1000 genomes]
rs58312523	1.00[EUR][1000 genomes]
rs58566767	1.00[EUR][1000 genomes]
rs59401679	1.00[EUR][1000 genomes]
rs60263379	1.00[EUR][1000 genomes]
rs60289279	1.00[EUR][1000 genomes]
rs60880341	1.00[EUR][1000 genomes]
rs61138871	1.00[EUR][1000 genomes]
rs61163286	1.00[EUR][1000 genomes]
rs61348385	1.00[EUR][1000 genomes]
rs61589902	1.00[EUR][1000 genomes]
rs73402380	1.00[EUR][1000 genomes]
rs73402381	1.00[EUR][1000 genomes]
rs73402386	1.00[EUR][1000 genomes]
rs73412035	1.00[EUR][1000 genomes]
rs73412040	1.00[EUR][1000 genomes]
rs73741826	1.00[EUR][1000 genomes]
rs73741830	1.00[EUR][1000 genomes]
rs73741832	1.00[EUR][1000 genomes]
rs73741833	1.00[EUR][1000 genomes]
rs73741836	1.00[EUR][1000 genomes]
rs73741932	1.00[EUR][1000 genomes]
rs73743206	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73743207	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7742848	1.00[EUR][1000 genomes]
rs9461859	1.00[EUR][1000 genomes]
rs9461861	1.00[EUR][1000 genomes]
rs9461865	1.00[EUR][1000 genomes]
rs9461866	1.00[EUR][1000 genomes]
rs9461871	1.00[EUR][1000 genomes]
rs9461872	1.00[EUR][1000 genomes]
rs9469408	1.00[EUR][1000 genomes]
rs9469409	1.00[EUR][1000 genomes]
rs9469410	1.00[EUR][1000 genomes]
rs9469415	1.00[EUR][1000 genomes]
rs9469416	1.00[EUR][1000 genomes]
rs9469419	1.00[EUR][1000 genomes]
rs9469421	1.00[EUR][1000 genomes]
rs9469433	1.00[EUR][1000 genomes]
rs9469437	1.00[EUR][1000 genomes]
rs9469441	1.00[EUR][1000 genomes]
rs9469442	1.00[EUR][1000 genomes]
rs9469444	1.00[EUR][1000 genomes]
rs9469445	1.00[EUR][1000 genomes]
rs9469446	1.00[EUR][1000 genomes]
rs9469468	1.00[EUR][1000 genomes]
rs9469473	1.00[EUR][1000 genomes]
rs9469474	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9469476	1.00[EUR][1000 genomes]
rs9469477	1.00[EUR][1000 genomes]
rs9469478	1.00[EUR][1000 genomes]
rs9469479	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr6:33530400-33538800	Weak transcription	Esophagus	oesophagus
2	chr6:33531400-33538400	Weak transcription	Osteobl	bone
3	chr6:33533200-33538400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:33533200-33538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:33533800-33538400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:33534200-33538600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:33534400-33538400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:33534600-33538400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:33534600-33538600	Weak transcription	Fetal Intestine Small	intestine
10	chr6:33534600-33538800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:33534800-33538400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:33534800-33538400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:33535000-33538400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:33535000-33538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:33535000-33538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:33535000-33538600	Weak transcription	HMEC	breast
17	chr6:33535200-33538400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:33535200-33538400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:33535400-33538400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:33535600-33538400	Weak transcription	NHEK	skin
21	chr6:33535600-33538400	Weak transcription	NHLF	lung
22	chr6:33536000-33538400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:33536000-33538400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:33536000-33538400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:33536000-33538400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:33536000-33538600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:33536000-33538600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:33536000-33538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:33536200-33538400	Weak transcription	Brain Germinal Matrix	brain
30	chr6:33536200-33538400	Weak transcription	Fetal Heart	heart
31	chr6:33536200-33538600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:33536200-33538600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:33536600-33538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:33537000-33538400	Weak transcription	Fetal Kidney	kidney
35	chr6:33537000-33538400	Weak transcription	HepG2	liver
36	chr6:33537000-33538600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:33537000-33538600	Weak transcription	Fetal Stomach	stomach
38	chr6:33537200-33538400	Weak transcription	K562	blood
39	chr6:33537600-33538400	Enhancers	Primary B cells from peripheral blood	blood
40	chr6:33537600-33538400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:33537600-33538400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr6:33537600-33538400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr6:33537600-33538400	Enhancers	GM12878-XiMat	blood
44	chr6:33537800-33538400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:33537800-33538400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:33537800-33538400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:33537800-33539400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr6:33538200-33538400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr6:33538200-33538400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr6:33538200-33538400	Flanking Active TSS	Primary B cells from cord blood	blood

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