Variant report

Variant	rs73727135
Chromosome Location	chr6:30896631-30896632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30882885..30885102-chr6:30895534..30897126,2	MCF-7	breast:
2	chr6:30895904..30897988-chr6:30898717..30900643,2	MCF-7	breast:
3	chr6:30693361..30695767-chr6:30895208..30897558,2	K562	blood:
4	chr6:30896359..30898136-chr6:30906028..30908064,2	K562	blood:

Variant related genes	Relation type
ENSG00000137411	Chromatin interaction
ENSG00000196260	Chromatin interaction
ENSG00000252761	Chromatin interaction

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

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

rs_ID	r²[population]
rs12111193	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3218831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57185281	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60401496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73727138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73727139	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73727140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73727141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73727142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73727165	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73727175	0.83[AMR][1000 genomes]
rs73727186	0.83[AMR][1000 genomes]
rs9500872	0.83[AMR][1000 genomes]
rs9501040	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30883400-30897000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:30884000-30897000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:30889400-30900000	Weak transcription	Small Intestine	intestine
4	chr6:30892600-30899600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:30894200-30898800	Weak transcription	NHLF	lung
6	chr6:30894600-30896800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:30894800-30897000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:30894800-30897000	Weak transcription	HSMMtube	muscle
9	chr6:30894800-30897200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:30894800-30897200	Weak transcription	Colonic Mucosa	Colon
11	chr6:30894800-30897200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:30894800-30897400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:30894800-30897400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:30894800-30898000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:30894800-30898200	Weak transcription	Gastric	stomach
16	chr6:30894800-30898800	Weak transcription	Fetal Lung	lung
17	chr6:30894800-30899200	Weak transcription	Fetal Intestine Large	intestine
18	chr6:30894800-30901000	Weak transcription	Fetal Kidney	kidney
19	chr6:30894800-30902600	Weak transcription	NHEK	skin
20	chr6:30894800-30903000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:30894800-30905000	Weak transcription	Right Ventricle	heart
22	chr6:30895000-30897400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:30895000-30899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:30895400-30897200	Weak transcription	Ovary	ovary
25	chr6:30895400-30897800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:30895400-30899800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:30895600-30896800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:30895600-30897400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:30895600-30897400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:30895800-30896800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr6:30895800-30897000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:30895800-30897000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:30896000-30897000	ZNF genes & repeats	K562	blood
34	chr6:30896000-30899000	Weak transcription	HUVEC	blood vessel
35	chr6:30896000-30904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:30896200-30896800	ZNF genes & repeats	Esophagus	oesophagus
37	chr6:30896200-30896800	ZNF genes & repeats	Fetal Thymus	thymus
38	chr6:30896200-30897000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:30896200-30897000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr6:30896200-30897000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr6:30896200-30897000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:30896200-30897000	ZNF genes & repeats	HMEC	breast
43	chr6:30896200-30897200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:30896200-30897200	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr6:30896400-30896800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:30896400-30896800	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr6:30896400-30896800	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr6:30896400-30896800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
49	chr6:30896400-30897000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr6:30896400-30897000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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