Variant report

Variant	rs9263787
Chromosome Location	chr6:31128244-31128245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31125954..31128399-chr6:31147370..31149956,2	MCF-7	breast:
2	chr6:31127915..31129464-chr6:31137096..31138939,2	K562	blood:
3	chr6:31126958..31132315-chr6:31135299..31140140,6	K562	blood:
4	chr6:31103022..31109591-chr6:31125707..31129394,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204540	Chromatin interaction
ENSG00000204538	Chromatin interaction
ENSG00000204531	Chromatin interaction
ENSG00000238211	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1065461	0.80[ASN][1000 genomes]
rs1419880	0.82[ASN][1000 genomes]
rs2073717	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073721	0.80[ASN][1000 genomes]
rs2073723	0.80[ASN][1000 genomes]
rs2239524	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2240063	0.90[ASN][1000 genomes]
rs2240064	0.90[ASN][1000 genomes]
rs3094187	0.84[ASN][1000 genomes]
rs3094193	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3094195	0.80[ASN][1000 genomes]
rs3095239	0.85[ASN][1000 genomes]
rs3130456	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131012	0.90[ASN][1000 genomes]
rs3132528	0.80[ASN][1000 genomes]
rs3132533	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs743401	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv525933	chr6:31081205-31142245	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv884137	chr6:31082361-31129310	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1019637	chr6:31104401-31354706	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv1029569	chr6:31104401-31412740	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
15	nsv538174	chr6:31104401-31412740	Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
16	nsv524061	chr6:31107087-31133943	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv884138	chr6:31114573-31129707	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9263787	CCHCR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31127200-31131800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:31127200-31140600	Weak transcription	Left Ventricle	heart
3	chr6:31127200-31146800	Weak transcription	Small Intestine	intestine
4	chr6:31127400-31129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:31127600-31129000	Weak transcription	Ovary	ovary
6	chr6:31127600-31129200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:31127600-31129400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:31127600-31129400	Weak transcription	Gastric	stomach
9	chr6:31127600-31129600	Weak transcription	Fetal Brain Male	brain
10	chr6:31127600-31131800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:31127600-31132600	Weak transcription	Pancreas	Pancrea
12	chr6:31127600-31133000	Weak transcription	Fetal Intestine Large	intestine
13	chr6:31127600-31136600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:31127600-31137000	Weak transcription	Stomach Mucosa	stomach
15	chr6:31127600-31143000	Weak transcription	Right Ventricle	heart
16	chr6:31127600-31147800	Weak transcription	Primary B cells from cord blood	blood
17	chr6:31127600-31148000	Weak transcription	Right Atrium	heart
18	chr6:31127800-31129000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:31127800-31129000	Weak transcription	Thymus	Thymus
20	chr6:31127800-31129200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:31127800-31129200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:31127800-31129200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:31127800-31129400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:31127800-31129400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:31127800-31129400	Weak transcription	Colonic Mucosa	Colon
26	chr6:31127800-31129400	Weak transcription	Lung	lung
27	chr6:31127800-31129800	Weak transcription	Adipose Nuclei	Adipose
28	chr6:31127800-31129800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:31127800-31130000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:31127800-31130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:31127800-31130200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:31127800-31130400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:31127800-31130400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:31127800-31130800	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:31127800-31131400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:31127800-31131400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:31127800-31131400	Weak transcription	Fetal Kidney	kidney
38	chr6:31127800-31131600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:31127800-31132400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:31127800-31132600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:31127800-31132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:31127800-31132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:31127800-31132800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:31127800-31133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:31127800-31136400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr6:31127800-31136400	Weak transcription	Primary T cells from cord blood	blood
47	chr6:31127800-31142800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:31127800-31142800	Weak transcription	HSMM	muscle
49	chr6:31127800-31146200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:31127800-31147800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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