Variant report

Variant	rs62400978
Chromosome Location	chr6:30795577-30795578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30794974..30797453-chr6:30880816..30883631,3	MCF-7	breast:
2	chr6:30787789..30791714-chr6:30792255..30797305,10	K562	blood:
3	chr6:30735516..30738178-chr6:30794315..30796554,3	MCF-7	breast:
4	chr6:30794499..30796682-chr6:30796946..30799909,4	K562	blood:
5	chr6:30792900..30798152-chr6:30848587..30855236,10	MCF-7	breast:
6	chr6:30786581..30788295-chr6:30794168..30796085,2	MCF-7	breast:
7	chr6:30794216..30799803-chr6:30838849..30846731,16	K562	blood:
8	chr6:30793814..30798702-chr6:30880453..30884092,5	K562	blood:
9	chr6:30787837..30792214-chr6:30792255..30797817,7	K562	blood:
10	chr6:30795223..30797850-chr6:30849493..30851248,2	K562	blood:
11	chr6:30794896..30797869-chr6:30842153..30843762,2	K562	blood:
12	chr6:30709015..30713327-chr6:30792572..30798179,6	K562	blood:
13	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
14	chr6:30780781..30784942-chr6:30792103..30795715,5	K562	blood:
15	chr3:63497233..63499254-chr6:30795355..30797782,2	MCF-7	breast:
16	chr6:30738970..30741977-chr6:30793706..30796488,3	MCF-7	breast:
17	chr6:30792780..30797161-chr6:30880651..30883443,6	K562	blood:
18	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
19	chr6:30794216..30796445-chr6:30839045..30841799,3	K562	blood:
20	chr3:64147440..64150145-chr6:30794750..30796376,2	MCF-7	breast:
21	chr6:30794393..30796248-chr6:30844324..30846676,2	K562	blood:
22	chr6:30780781..30783528-chr6:30792652..30795732,4	K562	blood:
23	chr6:30792427..30796566-chr6:30845190..30846951,4	MCF-7	breast:
24	chr6:30703055..30723531-chr6:30783853..30800217,151	MCF-7	breast:
25	chr6:30686162..30687750-chr6:30794446..30796448,2	MCF-7	breast:
26	chr6:30794295..30796763-chr6:31046294..31048518,2	K562	blood:
27	chr6:30733982..30738634-chr6:30792613..30796884,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201988	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000228022	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10807071	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12189560	0.84[EUR][1000 genomes]
rs12189986	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12190167	0.89[EUR][1000 genomes]
rs12190453	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12192177	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12192178	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12192205	0.85[EUR][1000 genomes]
rs12192430	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192704	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12192760	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195469	0.85[EUR][1000 genomes]
rs12195508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195605	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12195964	0.85[EUR][1000 genomes]
rs12197154	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12197221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198842	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12199559	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12199612	0.81[EUR][1000 genomes]
rs12200562	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12200829	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12202570	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12202778	0.82[EUR][1000 genomes]
rs12202957	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12203011	0.84[EUR][1000 genomes]
rs12203199	0.84[EUR][1000 genomes]
rs12203797	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12204146	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12204167	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12205844	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205961	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206022	0.85[EUR][1000 genomes]
rs12206742	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12206930	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12207652	0.82[EUR][1000 genomes]
rs12208098	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12208771	0.84[EUR][1000 genomes]
rs12209725	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12210111	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12210318	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12210590	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12212837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213493	0.85[EUR][1000 genomes]
rs12213497	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12214232	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12214398	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12215119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264372	0.82[ASN][1000 genomes]
rs16897921	0.85[EUR][1000 genomes]
rs16897932	0.85[EUR][1000 genomes]
rs17189483	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17189490	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394414	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28744161	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28744171	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28766294	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28877339	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28890780	0.82[EUR][1000 genomes]
rs4248152	0.85[EUR][1000 genomes]
rs4327730	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4409219	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711240	0.84[EUR][1000 genomes]
rs4711241	0.85[EUR][1000 genomes]
rs4713373	0.84[EUR][1000 genomes]
rs4713376	0.84[EUR][1000 genomes]
rs4713386	0.85[EUR][1000 genomes]
rs4713387	0.84[EUR][1000 genomes]
rs4713388	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4713391	0.85[EUR][1000 genomes]
rs59293911	0.84[EUR][1000 genomes]
rs62400964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400965	0.80[EUR][1000 genomes]
rs62400966	0.80[EUR][1000 genomes]
rs62400977	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400979	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62400980	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62408707	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62408708	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62408709	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62408712	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62408713	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62408715	0.84[EUR][1000 genomes]
rs62408716	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62408723	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62408724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62408725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62408726	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62408727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62408728	0.85[EUR][1000 genomes]
rs9501488	0.84[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	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	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
6	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
7	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
8	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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30779000-30795800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:30782000-30796000	Weak transcription	Pancreas	Pancrea
3	chr6:30782000-30797000	Weak transcription	Gastric	stomach
4	chr6:30788400-30795800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:30788400-30796000	Weak transcription	Lung	lung
6	chr6:30788600-30795800	Weak transcription	Left Ventricle	heart
7	chr6:30788600-30795800	Weak transcription	Right Ventricle	heart
8	chr6:30788800-30795800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:30790200-30795800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:30790200-30795800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:30790200-30796200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:30790400-30795600	Weak transcription	Liver	Liver
13	chr6:30790400-30795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:30790400-30795800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:30790400-30795800	Weak transcription	Aorta	Aorta
16	chr6:30790400-30795800	Weak transcription	Brain Angular Gyrus	brain
17	chr6:30790400-30795800	Weak transcription	Brain Anterior Caudate	brain
18	chr6:30790400-30795800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:30790400-30795800	Weak transcription	Fetal Kidney	kidney
20	chr6:30790600-30795800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:30790600-30796000	Weak transcription	Fetal Lung	lung
22	chr6:30790800-30795600	Weak transcription	Small Intestine	intestine
23	chr6:30790800-30795800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:30790800-30795800	Weak transcription	Adipose Nuclei	Adipose
25	chr6:30790800-30795800	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:30790800-30795800	Weak transcription	Brain Substantia Nigra	brain
27	chr6:30790800-30795800	Weak transcription	Fetal Heart	heart
28	chr6:30790800-30795800	Weak transcription	Fetal Stomach	stomach
29	chr6:30790800-30795800	Weak transcription	Right Atrium	heart
30	chr6:30790800-30795800	Weak transcription	NHDF-Ad	bronchial
31	chr6:30791000-30795800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:30791400-30795800	Weak transcription	Primary B cells from cord blood	blood
33	chr6:30791600-30795800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:30791800-30795800	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr6:30792400-30796400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:30792600-30796000	Weak transcription	Spleen	Spleen
37	chr6:30792800-30795800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:30793000-30795800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:30793200-30795800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:30793600-30796000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:30794000-30795800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr6:30794000-30796000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:30794000-30796000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:30794200-30795800	Genic enhancers	Primary T cells from cord blood	blood
45	chr6:30794200-30796000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr6:30794200-30796000	Enhancers	K562	blood
47	chr6:30794400-30795600	Enhancers	HepG2	liver
48	chr6:30794400-30795800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr6:30794400-30795800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr6:30794400-30795800	Enhancers	Skeletal Muscle Female	skeletal muscle

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