Variant report

Variant	rs6924270
Chromosome Location	chr6:30681980-30681981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30681943-30681993	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:30681943-30681993	SAEC	small airway:	n/a
3	chr6:30681943-30681993	H1-hESC	embryonic stem cell:	embryo
4	chr6:30681943-30681993	SK-N-SH	brain:	n/a
5	chr6:30681943-30681993	Hepatocyte	liver:	n/a
6	chr6:30681943-30681993	NB4	blood:	n/a
7	chr6:30681943-30681993	NHDF-neo	bronchial:	n/a
8	chr6:30681943-30681993	NH-A	brain:	n/a
9	chr6:30681943-30681993	A549	lung:	n/a
10	chr6:30681943-30681993	ECC-1	luminal epithelium:	n/a
11	chr6:30681943-30681993	NHBE	bronchial:	n/a
12	chr6:30681943-30681993	GM12892	blood:	n/a
13	chr6:30681943-30681993	AoSMC	blood vessel:	n/a
14	chr6:30681943-30681993	SK-N-MC	brain:	n/a
15	chr6:30681943-30681993	HAEpiC	amniotic membrane:	n/a
16	chr6:30681943-30681993	HL-60	blood:	n/a
17	chr6:30681943-30681993	NT2-D1	testis:	n/a
18	chr6:30681943-30681993	SK-N-SH_RA	brain:	n/a
19	chr6:30681943-30681993	HEEpiC	esophagus:	n/a
20	chr6:30681943-30681993	LNCaP	prostate:	n/a
21	chr6:30681943-30681993	T-47D	breast:	n/a
22	chr6:30681943-30681993	BE2_C	brain:	n/a
23	chr6:30681943-30681993	HMEC	breast:	n/a
24	chr6:30681943-30681993	GM19239	blood:	n/a
25	chr6:30681943-30681993	RPTEC	kidney:	n/a
26	chr6:30681943-30681993	U87	brain:	n/a
27	chr6:30681943-30681993	AG09309	skin:	n/a
28	chr6:30681943-30681993	GM12878	blood:	n/a
29	chr6:30681943-30681993	HCF	heart:	n/a
30	chr6:30681943-30681993	Caco-2	colon:	n/a
31	chr6:30681943-30681993	HRE	kidney:	n/a
32	chr6:30681943-30681993	PFSK-1	brain:	n/a
33	chr6:30681943-30681993	HRPEpiC	eye:	n/a
34	chr6:30681943-30681993	SKMC	muscle:	n/a
35	chr6:30681943-30681993	HEK293	kidney:	embryo
36	chr6:30681943-30681993	AG04449	skin:	fetal
37	chr6:30681943-30681993	HUVEC	blood vessel:	n/a
38	chr6:30681943-30681993	HNPCEpiC	eye:	n/a
39	chr6:30681943-30681993	K562	blood:	n/a
40	chr6:30681943-30681993	CMK	blood:	n/a
41	chr6:30681943-30681993	IMR90	lung:	fetal
42	chr6:30681943-30681993	HRCEpiC	kidney:	n/a
43	chr6:30681943-30681993	HIPEpiC	eye:	n/a
44	chr6:30681943-30681993	MCF10A-Er-Src	breast:	n/a
45	chr6:30681943-30681993	MCF-7	breast:	n/a
46	chr6:30681943-30681993	ProgFib	skin:	n/a
47	chr6:30681943-30681993	PANC-1	pancreas:	n/a
48	chr6:30681943-30681993	Jurkat	blood:	n/a
49	chr6:30681943-30681993	AG04450	lung:	fetal
50	chr6:30681943-30681993	PrEC	prostate:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
2	chr6:30680946..30683876-chr6:31587543..31589565,2	K562	blood:
3	chr6:30613572..30615692-chr6:30679736..30682346,2	MCF-7	breast:
4	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
5	chr6:30582954..30585144-chr6:30679590..30682672,3	K562	blood:
6	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:

No data

Variant related genes	Relation type
MDC1	CpG island
ENSG00000204569	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000230449	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000137404	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1079687	0.90[ASN][1000 genomes]
rs1109146	0.88[ASN][1000 genomes]
rs16867852	0.88[ASN][1000 genomes]
rs16897781	0.88[ASN][1000 genomes]
rs16897791	0.88[ASN][1000 genomes]
rs2075015	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2239886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269702	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2269707	0.88[ASN][1000 genomes]
rs2285321	0.88[ASN][1000 genomes]
rs2394392	0.90[ASN][1000 genomes]
rs28986465	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3094090	0.98[ASN][1000 genomes]
rs3132595	0.90[ASN][1000 genomes]
rs3132608	0.90[ASN][1000 genomes]
rs59378621	0.82[ASN][1000 genomes]
rs61486053	0.88[ASN][1000 genomes]
rs6929626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929698	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6931293	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6937357	0.88[ASN][1000 genomes]
rs7756147	0.85[ASN][1000 genomes]
rs7762626	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9295901	0.86[ASN][1000 genomes]
rs9295902	0.88[ASN][1000 genomes]
rs9295904	0.84[ASN][1000 genomes]
rs9295905	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9295907	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9295908	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9295909	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9461620	0.88[ASN][1000 genomes]
rs9461622	0.80[ASN][1000 genomes]
rs9461623	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9461624	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9468803	0.88[ASN][1000 genomes]
rs9468805	0.88[ASN][1000 genomes]
rs9468807	0.86[ASN][1000 genomes]
rs9468811	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9468813	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9468814	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501338	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9501481	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9501483	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9501484	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
2	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
3	chr6:30659600-30684200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:30659600-30684200	Weak transcription	Fetal Brain Male	brain
5	chr6:30659600-30684800	Weak transcription	Small Intestine	intestine
6	chr6:30666200-30683000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr6:30666200-30683000	Strong transcription	Fetal Muscle Leg	muscle
8	chr6:30666200-30683000	Strong transcription	Fetal Stomach	stomach
9	chr6:30666200-30683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:30666400-30682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:30666400-30683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:30666400-30683200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:30666800-30683400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:30667200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:30667200-30683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:30667400-30683000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:30667400-30683000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:30667600-30683000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:30667600-30683200	Strong transcription	Dnd41	blood
20	chr6:30668400-30684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:30668600-30682000	Strong transcription	Fetal Intestine Small	intestine
22	chr6:30669200-30682800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:30669200-30683200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:30669200-30683200	Strong transcription	Placenta	Placenta
25	chr6:30669800-30682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:30669800-30683000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:30670000-30682400	Strong transcription	Brain Anterior Caudate	brain
28	chr6:30670000-30683200	Strong transcription	Primary T cells from cord blood	blood
29	chr6:30670000-30683200	Strong transcription	Fetal Brain Female	brain
30	chr6:30670200-30682600	Strong transcription	HepG2	liver
31	chr6:30670200-30683000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:30670200-30683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:30670200-30683000	Strong transcription	Spleen	Spleen
34	chr6:30670200-30683200	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr6:30670200-30683400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr6:30672800-30683000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:30672800-30683000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:30674400-30682400	Strong transcription	K562	blood
39	chr6:30674600-30682800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:30674600-30683000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:30674600-30683000	Strong transcription	Fetal Lung	lung
42	chr6:30674600-30683200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:30674800-30682200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr6:30674800-30683000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:30674800-30683000	Strong transcription	Left Ventricle	heart
46	chr6:30675000-30682000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:30675400-30682800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:30676200-30683000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:30677200-30683000	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr6:30677400-30682400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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