Variant report

Variant	rs9405048
Chromosome Location	chr6:30670292-30670293
allele	C/T
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	chr6:30670209-30670408	K562	blood:	n/a	n/a
2	POLR2A	chr6:30670232-30672843	K562	blood:	n/a	n/a
3	POLR2A	chr6:30670252-30670589	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:30670240-30670467	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30669574..30671126-chr6:30671820..30673785,2	MCF-7	breast:
2	chr6:30670013..30672002-chr6:30685618..30688068,3	MCF-7	breast:

Variant related genes	Relation type
MDC1-AS1	TF binding region
RPL7P4	TF binding region
ENSG00000196230	Chromatin interaction
ENSG00000137337	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12174151	0.87[AFR][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	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	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
5	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
6	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
7	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9405048	CCHCR1	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30658800-30670400	Weak transcription	Lung	lung
2	chr6:30659000-30670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30659000-30670800	Weak transcription	Right Ventricle	heart
4	chr6:30659200-30670400	Weak transcription	Aorta	Aorta
5	chr6:30659200-30670400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:30659200-30673400	Weak transcription	Psoas Muscle	Psoas
7	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
8	chr6:30659400-30671000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:30659400-30672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:30659400-30675800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
12	chr6:30659600-30670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:30659600-30670400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:30659600-30670400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:30659600-30670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:30659600-30670400	Weak transcription	HUVEC	blood vessel
17	chr6:30659600-30670800	Weak transcription	Primary B cells from cord blood	blood
18	chr6:30659600-30672200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:30659600-30680600	Weak transcription	Fetal Heart	heart
20	chr6:30659600-30684200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:30659600-30684200	Weak transcription	Fetal Brain Male	brain
22	chr6:30659600-30684800	Weak transcription	Small Intestine	intestine
23	chr6:30659800-30674800	Weak transcription	GM12878-XiMat	blood
24	chr6:30663200-30674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:30663200-30674600	Weak transcription	A549	lung
26	chr6:30663200-30677000	Weak transcription	NHDF-Ad	bronchial
27	chr6:30663200-30677400	Weak transcription	Fetal Kidney	kidney
28	chr6:30663200-30678600	Weak transcription	HMEC	breast
29	chr6:30663400-30677400	Weak transcription	NH-A	brain
30	chr6:30663800-30671400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:30663800-30674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:30663800-30674800	Weak transcription	Hela-S3	cervix
33	chr6:30664400-30672600	Weak transcription	Pancreas	Pancrea
34	chr6:30666200-30683000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr6:30666200-30683000	Strong transcription	Fetal Muscle Leg	muscle
36	chr6:30666200-30683000	Strong transcription	Fetal Stomach	stomach
37	chr6:30666200-30683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:30666400-30682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:30666400-30683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:30666400-30683200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:30666600-30675400	Strong transcription	Fetal Thymus	thymus
42	chr6:30666600-30680600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:30666800-30683400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:30667200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:30667200-30683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:30667400-30676400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr6:30667400-30680000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:30667400-30683000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:30667400-30683000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:30667600-30671600	Strong transcription	Osteobl	bone

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