Variant report

Variant	rs3218814
Chromosome Location	chr6:30878579-30878580
allele	A/T
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	chr6:30878530-30878580	U87	brain:	n/a
2	chr6:30878530-30878580	RPTEC	kidney:	n/a
3	chr6:30878530-30878580	AG09319	gingival:	n/a
4	chr6:30878530-30878580	ovcar-3	ovarian:	n/a
5	chr6:30878530-30878580	LNCaP	prostate:	n/a
6	chr6:30878530-30878580	HCF	heart:	n/a
7	chr6:30878530-30878580	AG04450	lung:	fetal
8	chr6:30878530-30878580	GM19239	blood:	n/a
9	chr6:30878530-30878580	SK-N-SH_RA	brain:	n/a
10	chr6:30878530-30878580	HEK293	kidney:	embryo
11	chr6:30878530-30878580	HMEC	breast:	n/a
12	chr6:30878530-30878580	HRCEpiC	kidney:	n/a
13	chr6:30878530-30878580	SK-N-SH	brain:	n/a
14	chr6:30878530-30878580	MCF10A-Er-Src	breast:	n/a
15	chr6:30878530-30878580	ProgFib	skin:	n/a
16	chr6:30878530-30878580	HCM	heart:	n/a
17	chr6:30878530-30878580	ECC-1	luminal epithelium:	n/a
18	chr6:30878530-30878580	GM06990	blood:	n/a
19	chr6:30878530-30878580	HIPEpiC	eye:	n/a
20	chr6:30878530-30878580	AG04449	skin:	fetal
21	chr6:30878530-30878580	NT2-D1	testis:	n/a
22	chr6:30878530-30878580	HNPCEpiC	eye:	n/a
23	chr6:30878530-30878580	AG10803	skin:	n/a
24	chr6:30878530-30878580	BJ	skin:	n/a
25	chr6:30878530-30878580	HUVEC	blood vessel:	n/a
26	chr6:30878530-30878580	GM12892	blood:	n/a
27	chr6:30878530-30878580	T-47D	breast:	n/a
28	chr6:30878530-30878580	SK-N-MC	brain:	n/a
29	chr6:30878530-30878580	IMR90	lung:	fetal
30	chr6:30878530-30878580	SAEC	small airway:	n/a
31	chr6:30878530-30878580	K562	blood:	n/a
32	chr6:30878530-30878580	HAEpiC	amniotic membrane:	n/a
33	chr6:30878530-30878580	HRE	kidney:	n/a
34	chr6:30878530-30878580	HCPEpiC	choroid plexus:	n/a
35	chr6:30878530-30878580	HEEpiC	esophagus:	n/a
36	chr6:30878530-30878580	Hela-S3	cervix:	n/a
37	chr6:30878530-30878580	MCF-7	breast:	n/a
38	chr6:30878530-30878580	GM12891	blood:	n/a
39	chr6:30878530-30878580	CMK	blood:	n/a
40	chr6:30878530-30878580	HepG2	liver:	n/a
41	chr6:30878530-30878580	SKMC	muscle:	n/a
42	chr6:30878530-30878580	BE2_C	brain:	n/a
43	chr6:30878530-30878580	GM12878	blood:	n/a
44	chr6:30878530-30878580	HL-60	blood:	n/a
45	chr6:30878530-30878580	HRPEpiC	eye:	n/a
46	chr6:30878530-30878580	Caco-2	colon:	n/a
47	chr6:30878530-30878580	HPAEpiC	pulmonary alveolar:	n/a
48	chr6:30878530-30878580	NH-A	brain:	n/a
49	chr6:30878530-30878580	PANC-1	pancreas:	n/a
50	chr6:30878530-30878580	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:30796384..30798794-chr6:30876100..30879027,2	MCF-7	breast:
2	chr6:30707481..30713943-chr6:30872979..30880006,10	MCF-7	breast:
3	chr6:30581497..30584727-chr6:30876949..30882098,5	K562	blood:
4	chr6:30848838..30854096-chr6:30874501..30878794,8	MCF-7	breast:
5	chr6:30831173..30833019-chr6:30877355..30879360,2	K562	blood:
6	chr6:30850840..30855328-chr6:30877838..30882665,10	MCF-7	breast:

No data

Variant related genes	Relation type
VARS2	CpG island
GTF2H4	CpG island
ENSG00000202241	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1049622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1049628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1052693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947111	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12206075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13215246	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13215409	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1419693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074511	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229933	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239518	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2284175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285319	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286655	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2524236	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2894055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213644	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3218802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3869085	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3869086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3909130	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41288539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4618569	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711247	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711249	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4713402	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6457282	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6901464	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6920760	0.82[EUR][1000 genomes]
rs6921687	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6924600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7743661	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7756521	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7761589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs916920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295929	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9295931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9295932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9295933	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9295934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357102	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9366761	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368646	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9378191	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380200	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9394021	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9461638	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468842	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468847	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9501032	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9501035	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9501342	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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	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	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30876800-30881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:30876800-30881400	Weak transcription	Right Atrium	heart
3	chr6:30876800-30881600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:30876800-30881800	Weak transcription	Small Intestine	intestine
5	chr6:30877000-30878600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:30877000-30878600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:30877000-30881000	Weak transcription	Psoas Muscle	Psoas
8	chr6:30877000-30881200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:30877000-30881200	Weak transcription	Fetal Heart	heart
10	chr6:30877000-30881200	Weak transcription	Stomach Mucosa	stomach
11	chr6:30877000-30881200	Weak transcription	A549	lung
12	chr6:30877000-30881400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:30877200-30880800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:30877200-30881000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:30877200-30881000	Weak transcription	Fetal Brain Male	brain
16	chr6:30877200-30881000	Strong transcription	Fetal Intestine Large	intestine
17	chr6:30877200-30881000	Strong transcription	Fetal Intestine Small	intestine
18	chr6:30877200-30881200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:30877200-30881200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:30877200-30881200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:30877200-30881200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:30877200-30881400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:30877200-30881400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:30877200-30881400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr6:30877200-30881400	Weak transcription	HSMM	muscle
26	chr6:30877400-30878600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:30877400-30878600	Weak transcription	Hela-S3	cervix
28	chr6:30877400-30878600	Weak transcription	NHDF-Ad	bronchial
29	chr6:30877400-30878800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:30877400-30879800	Genic enhancers	Liver	Liver
31	chr6:30877400-30880000	Strong transcription	Fetal Lung	lung
32	chr6:30877400-30880200	Strong transcription	Brain Substantia Nigra	brain
33	chr6:30877400-30880400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:30877400-30880800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:30877400-30880800	Strong transcription	HSMMtube	muscle
36	chr6:30877400-30881000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:30877400-30881000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:30877400-30881200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:30877400-30881400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:30877400-30881400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:30877400-30881400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:30877400-30881400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:30877400-30881400	Strong transcription	Fetal Stomach	stomach
44	chr6:30877400-30881600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:30877400-30881600	Strong transcription	K562	blood
46	chr6:30877600-30879600	Genic enhancers	Dnd41	blood
47	chr6:30877600-30879800	Strong transcription	Colon Smooth Muscle	Colon
48	chr6:30877600-30880000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:30877600-30880000	Strong transcription	Brain Hippocampus Middle	brain
50	chr6:30877600-30880200	Strong transcription	Fetal Thymus	thymus

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