Variant report

Variant	rs6495168
Chromosome Location	chr15:75630160-75630161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:75630134-75630550	K562	blood:	n/a	n/a
2	POLR2A	chr15:75629866-75630461	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:75629881-75630394	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:75629946-75630489	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:75630094-75630251	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75626715..75630609-chr15:75659083..75662163,7	K562	blood:
2	chr15:75628015..75635137-chr15:75659177..75662618,8	MCF-7	breast:
3	chr15:75628778..75631510-chr15:75648708..75650958,2	MCF-7	breast:
4	chr15:75246342..75249068-chr15:75626976..75630362,3	K562	blood:
5	chr15:75493870..75496515-chr15:75627756..75630428,2	K562	blood:

No data

Variant related genes	Relation type
COMMD4	TF binding region
ENSG00000167173	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000140400	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6495171	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription 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	96 gene(s)	inside rSNPs	diseases
2	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv977736	chr15:75509295-75632679	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
7	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6495168	MAN2C1	cis	Thyroid	GTEx
rs6495168	MAN2C1	cis	Whole Blood	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75629200-75630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:75629200-75630400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:75629200-75631000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:75629200-75631000	Weak transcription	Esophagus	oesophagus
5	chr15:75629200-75631200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:75629200-75631200	Weak transcription	Brain Anterior Caudate	brain
7	chr15:75629200-75631600	Weak transcription	Ovary	ovary
8	chr15:75629200-75636200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:75629200-75638800	Weak transcription	Primary B cells from cord blood	blood
10	chr15:75629200-75639000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:75629200-75639000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:75629200-75639000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:75629200-75639200	Weak transcription	Aorta	Aorta
14	chr15:75629200-75639200	Weak transcription	Small Intestine	intestine
15	chr15:75629400-75630200	Enhancers	Fetal Muscle Trunk	muscle
16	chr15:75629400-75630400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:75629400-75630400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:75629400-75630400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:75629400-75630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:75629400-75630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:75629400-75630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:75629400-75630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:75629400-75630800	Weak transcription	Fetal Intestine Small	intestine
24	chr15:75629400-75630800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:75629400-75631000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:75629400-75631000	Weak transcription	Placenta	Placenta
27	chr15:75629400-75631000	Weak transcription	Gastric	stomach
28	chr15:75629400-75631000	Weak transcription	Pancreas	Pancrea
29	chr15:75629400-75631000	Weak transcription	Spleen	Spleen
30	chr15:75629400-75631000	Weak transcription	NHLF	lung
31	chr15:75629400-75631200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:75629400-75631200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:75629400-75631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:75629400-75631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:75629400-75631200	Weak transcription	Osteobl	bone
36	chr15:75629400-75631600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:75629400-75631600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:75629400-75631600	Weak transcription	HSMMtube	muscle
39	chr15:75629400-75631800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:75629400-75631800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:75629400-75631800	Weak transcription	Brain Substantia Nigra	brain
42	chr15:75629400-75631800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr15:75629400-75631800	Weak transcription	HMEC	breast
44	chr15:75629400-75632000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:75629400-75632000	Weak transcription	Primary T cells from cord blood	blood
46	chr15:75629400-75632000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:75629400-75632200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:75629400-75632400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:75629400-75634800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:75629400-75635000	Weak transcription	Monocytes-CD14+_RO01746	blood

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