Variant report

Variant	rs4818993
Chromosome Location	chr21:46368464-46368465
allele	A/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46366778..46369466-chr21:46371570..46373998,2	MCF-7	breast:
2	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
3	chr21:46220043..46222699-chr21:46367096..46370692,5	MCF-7	breast:
4	chr21:46367892..46370514-chr21:46556035..46557918,2	K562	blood:
5	chr21:46366939..46370824-chr21:46493290..46496314,4	MCF-7	breast:
6	chr21:46298787..46301754-chr21:46366839..46368624,2	K562	blood:
7	chr21:46270971..46273978-chr21:46365251..46368818,3	MCF-7	breast:
8	chr21:46367287..46370938-chr21:46384010..46388059,3	K562	blood:
9	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
10	chr21:46367039..46368595-chr21:46379275..46381982,2	MCF-7	breast:
11	chr21:46233556..46235147-chr21:46366013..46368911,2	MCF-7	breast:
12	chr21:46368229..46374115-chr21:46374495..46378460,7	MCF-7	breast:
13	chr21:46368238..46371642-chr21:46387685..46392289,4	MCF-7	breast:
14	chr21:46257986..46260009-chr21:46368345..46370493,2	MCF-7	breast:
15	chr21:46289545..46293998-chr21:46365858..46370376,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000183255	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11701378	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11701457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11702593	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985483	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2005951	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012438	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2294166	0.93[ASN][1000 genomes]
rs2294168	0.93[ASN][1000 genomes]
rs2294170	0.83[ASN][1000 genomes]
rs2838742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838751	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs28399723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28461900	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4143368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818990	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55716911	0.85[ASN][1000 genomes]
rs55859454	0.81[ASN][1000 genomes]
rs56213773	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62214513	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs914205	1.00[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
10	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv544480	chr21:46364856-46413159	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
27	nsv913992	chr21:46366547-46408790	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46360800-46372400	Weak transcription	Aorta	Aorta
2	chr21:46361000-46384200	Weak transcription	Fetal Kidney	kidney
3	chr21:46361400-46369600	Weak transcription	NH-A	brain
4	chr21:46361400-46384600	Weak transcription	Small Intestine	intestine
5	chr21:46361600-46375600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:46361600-46378000	Weak transcription	Stomach Mucosa	stomach
7	chr21:46361600-46378200	Weak transcription	NHDF-Ad	bronchial
8	chr21:46361600-46389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:46361800-46368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:46361800-46369600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:46361800-46369600	Weak transcription	Brain Substantia Nigra	brain
12	chr21:46361800-46372400	Strong transcription	Fetal Brain Female	brain
13	chr21:46362000-46382800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:46362200-46369600	Strong transcription	Fetal Stomach	stomach
15	chr21:46362400-46368600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:46362400-46383200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr21:46362600-46369800	Strong transcription	Thymus	Thymus
18	chr21:46363000-46369000	Strong transcription	NHEK	skin
19	chr21:46363000-46369600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:46363000-46382400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr21:46363200-46369200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr21:46363200-46369400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr21:46363200-46369600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr21:46363200-46369600	Strong transcription	Fetal Intestine Small	intestine
25	chr21:46363200-46373800	Strong transcription	Brain Germinal Matrix	brain
26	chr21:46363400-46369400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr21:46363400-46373000	Strong transcription	Esophagus	oesophagus
28	chr21:46363400-46377400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr21:46363600-46368600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr21:46363600-46368800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr21:46363600-46378000	Strong transcription	Fetal Intestine Large	intestine
32	chr21:46363600-46378000	Strong transcription	NHLF	lung
33	chr21:46363600-46378600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:46363800-46369400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr21:46364200-46391400	Strong transcription	Dnd41	blood
36	chr21:46364400-46368600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr21:46364400-46377200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr21:46364600-46369600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:46364800-46380400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr21:46365000-46369400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr21:46365000-46369400	Weak transcription	Colon Smooth Muscle	Colon
42	chr21:46365400-46369400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr21:46365400-46369600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr21:46365400-46369600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr21:46365400-46369600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr21:46365400-46369600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:46365400-46369800	Weak transcription	Primary B cells from cord blood	blood
48	chr21:46365400-46370000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:46365400-46370200	Weak transcription	K562	blood
50	chr21:46365400-46372400	Weak transcription	Brain Angular Gyrus	brain

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