Variant report

Variant	rs73727439
Chromosome Location	chr6:30518874-30518875
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30518593-30519019	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:30517859-30519406	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30455809..30458838-chr6:30516407..30518949,3	K562	blood:
2	chr6:30517868..30527565-chr6:30576812..30587078,24	MCF-7	breast:
3	chr6:30450929..30459545-chr6:30516289..30528141,20	K562	blood:

Variant related genes	Relation type
GNL1	TF binding region
ENSG00000204569	Chromatin interaction
ENSG00000236603	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17189364	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17195551	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56212767	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60337024	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60794866	0.83[AFR][1000 genomes]
rs73727448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73727449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73727450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73727451	0.89[AFR][1000 genomes]
rs73727466	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30509800-30519600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:30509800-30523000	Weak transcription	A549	lung
3	chr6:30510000-30521200	Weak transcription	Hela-S3	cervix
4	chr6:30510000-30522400	Weak transcription	Fetal Heart	heart
5	chr6:30510000-30523000	Weak transcription	Right Atrium	heart
6	chr6:30510200-30519000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:30510800-30520000	Weak transcription	Fetal Brain Male	brain
8	chr6:30511600-30522600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr6:30511800-30522600	Strong transcription	Placenta	Placenta
10	chr6:30512400-30522000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:30512400-30522200	Strong transcription	Fetal Stomach	stomach
12	chr6:30512600-30522400	Strong transcription	Fetal Thymus	thymus
13	chr6:30512800-30522000	Strong transcription	Fetal Intestine Small	intestine
14	chr6:30512800-30522000	Strong transcription	Lung	lung
15	chr6:30512800-30522000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:30512800-30522200	Strong transcription	HepG2	liver
17	chr6:30512800-30522400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:30512800-30522400	Strong transcription	Primary B cells from cord blood	blood
19	chr6:30512800-30522400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:30513000-30520600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:30513000-30522000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:30513000-30522000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:30513000-30522200	Strong transcription	Fetal Intestine Large	intestine
24	chr6:30513200-30522000	Strong transcription	Liver	Liver
25	chr6:30513200-30522000	Strong transcription	Brain Hippocampus Middle	brain
26	chr6:30513200-30522200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:30513200-30522200	Strong transcription	Brain Anterior Caudate	brain
28	chr6:30513200-30522200	Strong transcription	Fetal Muscle Leg	muscle
29	chr6:30513200-30522400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:30513200-30522400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:30513200-30522400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:30513200-30522400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:30513200-30522400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:30513200-30522400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr6:30513200-30522600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr6:30513200-30522600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:30513200-30522600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr6:30513200-30522600	Strong transcription	Dnd41	blood
39	chr6:30513200-30523000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:30513400-30519200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr6:30513400-30520200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:30513400-30521800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:30513400-30522000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:30513400-30522000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:30513400-30522000	Strong transcription	Fetal Brain Female	brain
46	chr6:30513400-30522000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:30513400-30522200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:30513400-30522200	Strong transcription	Brain Germinal Matrix	brain
49	chr6:30513400-30522200	Strong transcription	Ovary	ovary
50	chr6:30513400-30522400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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