Variant report

Variant	rs72862795
Chromosome Location	chr6:44276347-44276348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44273300..44278087-chr6:44284295..44289273,5	MCF-7	breast:
2	chr6:44223584..44225235-chr6:44274881..44277464,2	MCF-7	breast:
3	chr6:44223830..44225335-chr6:44275371..44277588,2	K562	blood:
4	chr6:44275712..44278535-chr6:44356876..44358602,2	K562	blood:
5	chr6:44232053..44233854-chr6:44274858..44277076,2	MCF-7	breast:
6	chr6:44229040..44230612-chr6:44275576..44277404,2	MCF-7	breast:
7	chr6:44238306..44240790-chr6:44275109..44276734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178233	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000146232	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1056092	0.91[EUR][1000 genomes]
rs1056093	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17209560	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3175074	0.80[EUR][1000 genomes]
rs55868013	0.82[EUR][1000 genomes]
rs56130549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900895	0.82[EUR][1000 genomes]
rs7451189	0.91[EUR][1000 genomes]
rs9472246	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44265600-44279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:44266000-44276600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:44266000-44277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:44266000-44280000	Weak transcription	Small Intestine	intestine
5	chr6:44266200-44276400	Weak transcription	Fetal Heart	heart
6	chr6:44266200-44276800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:44266200-44279600	Weak transcription	Right Atrium	heart
8	chr6:44266800-44276600	Strong transcription	Fetal Intestine Small	intestine
9	chr6:44266800-44279200	Strong transcription	Brain Cingulate Gyrus	brain
10	chr6:44266800-44279800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:44267000-44276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:44267000-44279600	Strong transcription	Fetal Muscle Leg	muscle
13	chr6:44267000-44279800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:44267000-44279800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr6:44267200-44279400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:44267200-44279600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:44267200-44279600	Strong transcription	Fetal Thymus	thymus
18	chr6:44267200-44279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:44267200-44279800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:44267400-44276400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:44267400-44276600	Strong transcription	NHEK	skin
22	chr6:44267400-44276800	Strong transcription	Fetal Intestine Large	intestine
23	chr6:44267400-44279200	Strong transcription	Liver	Liver
24	chr6:44267400-44279400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:44267400-44279600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:44267400-44279600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:44267400-44280000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:44267400-44280000	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr6:44267600-44279200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:44267600-44279400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:44267600-44279800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:44267800-44276600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:44267800-44277000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr6:44267800-44279800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:44267800-44279800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr6:44268000-44276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:44268000-44276600	Strong transcription	Right Ventricle	heart
38	chr6:44268000-44276800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:44268000-44276800	Strong transcription	Left Ventricle	heart
40	chr6:44268000-44277000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr6:44268000-44277800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr6:44268000-44278800	Strong transcription	Dnd41	blood
43	chr6:44268000-44279200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:44268000-44279200	Strong transcription	Fetal Brain Female	brain
45	chr6:44268000-44279200	Strong transcription	Gastric	stomach
46	chr6:44268000-44279200	Strong transcription	HepG2	liver
47	chr6:44268000-44279400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:44268000-44279400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:44268000-44279400	Strong transcription	Primary T cells from cord blood	blood
50	chr6:44268000-44279400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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