Variant report

Variant	rs73385150
Chromosome Location	chr6:27648674-27648675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
2	chr6:27635615..27637908-chr6:27648456..27651146,2	K562	blood:
3	chr6:26157578..26160001-chr6:27646646..27649152,2	MCF-7	breast:
4	chr6:27644939..27650269-chr6:27651814..27657274,7	K562	blood:
5	chr6:27572241..27575123-chr6:27648524..27650391,2	K562	blood:

Variant related genes	Relation type
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10946941	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11750956	0.81[EUR][1000 genomes]
rs11751859	0.81[EUR][1000 genomes]
rs11753029	0.81[EUR][1000 genomes]
rs11754166	0.81[EUR][1000 genomes]
rs11757320	0.81[EUR][1000 genomes]
rs11757748	0.81[EUR][1000 genomes]
rs11963780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966565	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11970451	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59701161	1.00[ASN][1000 genomes]
rs61025649	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6908615	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73384331	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73385153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73389017	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73389037	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73389064	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7743306	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27646000-27649000	Weak transcription	A549	lung
2	chr6:27646800-27649200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr6:27646800-27649800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:27646800-27649800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:27647000-27648800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:27647000-27649000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr6:27647000-27649200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:27647000-27649600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:27647000-27649800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:27647000-27649800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:27647000-27650000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:27647200-27648800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr6:27647200-27648800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:27647200-27649000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:27647200-27649400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:27647200-27649400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr6:27647200-27649600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:27647200-27649600	Active TSS	Ovary	ovary
19	chr6:27647400-27648800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:27647400-27649000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:27647600-27648800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:27647600-27648800	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr6:27647600-27648800	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr6:27647600-27648800	Bivalent Enhancer	Fetal Thymus	thymus
25	chr6:27647600-27649400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr6:27647800-27649200	Flanking Active TSS	GM12878-XiMat	blood
27	chr6:27648000-27648800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr6:27648000-27648800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr6:27648000-27648800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr6:27648000-27649000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr6:27648000-27649600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr6:27648200-27648800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:27648200-27648800	ZNF genes & repeats	HMEC	breast
34	chr6:27648200-27648800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr6:27648200-27649200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:27648400-27648800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:27648400-27648800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:27648400-27648800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr6:27648400-27648800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:27648400-27648800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr6:27648400-27649600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr6:27648600-27648800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:27648600-27648800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:27648600-27648800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:27648600-27648800	Enhancers	HepG2	liver
46	chr6:27648600-27648800	Bivalent Enhancer	NH-A	brain
47	chr6:27648600-27649000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:27648600-27649000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:27648600-27649000	Bivalent Enhancer	Fetal Kidney	kidney
50	chr6:27648600-27649200	Active TSS	NHEK	skin

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