Variant report

Variant	rs59911784
Chromosome Location	chr2:96933809-96933810
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:96923812..96929557-chr2:96929618..96934014,11	K562	blood:
2	chr2:96929992..96934856-chr2:96999935..97004454,8	K562	blood:
3	chr2:96871739..96877156-chr2:96928674..96935050,17	K562	blood:
4	chr2:96781170..96783829-chr2:96932925..96934478,2	MCF-7	breast:
5	chr2:96930374..96934423-chr2:97000506..97002803,4	MCF-7	breast:
6	chr2:96868913..96876440-chr2:96928017..96934530,23	K562	blood:
7	chr2:96932066..96934505-chr2:97010263..97012552,2	MCF-7	breast:
8	chr2:96928652..96934635-chr2:96966746..96973769,11	K562	blood:
9	chr2:96930148..96938607-chr2:96966008..96973188,21	MCF-7	breast:
10	chr2:96871572..96876906-chr2:96928916..96935631,15	MCF-7	breast:
11	chr2:96870309..96876262-chr2:96928720..96933891,16	MCF-7	breast:
12	chr2:96929774..96935946-chr2:96940519..96946631,7	K562	blood:
13	chr2:96930650..96934516-chr2:96954888..96957639,4	MCF-7	breast:
14	chr2:96862732..96864612-chr2:96933173..96934680,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204685	Chromatin interaction
ENSG00000144028	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000222040	Chromatin interaction
ENSG00000121152	Chromatin interaction
ENSG00000135956	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12611936	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12612136	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12614113	1.00[AMR][1000 genomes]
rs12614623	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12616326	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12619114	1.00[AMR][1000 genomes]
rs12619490	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12619573	1.00[AMR][1000 genomes]
rs12619919	1.00[AMR][1000 genomes]
rs12620576	1.00[AMR][1000 genomes]
rs12620768	1.00[AMR][1000 genomes]
rs12621163	1.00[AMR][1000 genomes]
rs12621619	1.00[AMR][1000 genomes]
rs12621688	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2276647	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2290908	1.00[AMR][1000 genomes]
rs3813659	1.00[AMR][1000 genomes]
rs3813660	1.00[AMR][1000 genomes]
rs56742757	0.96[ASN][1000 genomes]
rs57213829	1.00[AMR][1000 genomes]
rs57248244	1.00[ASN][1000 genomes]
rs57319731	1.00[AMR][1000 genomes]
rs57367779	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57477571	1.00[AMR][1000 genomes]
rs58132887	1.00[AMR][1000 genomes]
rs58152078	1.00[AMR][1000 genomes]
rs59168739	1.00[AMR][1000 genomes]
rs59525841	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59621486	1.00[AMR][1000 genomes]
rs59939559	1.00[AMR][1000 genomes]
rs60013962	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60020980	1.00[AMR][1000 genomes]
rs60302421	1.00[AMR][1000 genomes]
rs60596893	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60893927	1.00[AMR][1000 genomes]
rs61096003	1.00[AMR][1000 genomes];1.00[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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96932600-96934000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr2:96932600-96934200	Weak transcription	Aorta	Aorta
3	chr2:96932600-96941600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:96932800-96934400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:96932800-96934800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:96932800-96970400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:96933200-96935200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr2:96933200-96938200	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr2:96933200-96970200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:96933200-96970400	Weak transcription	Right Atrium	heart
11	chr2:96933400-96934000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:96933400-96934200	Weak transcription	Colonic Mucosa	Colon
13	chr2:96933400-96934200	Weak transcription	Ovary	ovary
14	chr2:96933400-96934400	Weak transcription	Fetal Brain Male	brain
15	chr2:96933400-96934600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:96933400-96934600	Genic enhancers	Osteobl	bone
17	chr2:96933400-96935000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:96933400-96935000	Strong transcription	HUVEC	blood vessel
19	chr2:96933400-96935200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr2:96933400-96935400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:96933400-96935400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:96933400-96935400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:96933400-96935400	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:96933400-96935600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:96933400-96935600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:96933400-96935600	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr2:96933400-96936000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:96933400-96938000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:96933400-96938200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr2:96933400-96941000	Strong transcription	NHEK	skin
31	chr2:96933400-96956800	Strong transcription	Placenta	Placenta
32	chr2:96933400-96957400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:96933400-96968800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:96933400-96969000	Strong transcription	Left Ventricle	heart
35	chr2:96933400-96969200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr2:96933400-96969400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:96933400-96969400	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr2:96933400-96970200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:96933400-96970200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:96933400-96970200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:96933400-96970200	Strong transcription	Fetal Lung	lung
42	chr2:96933400-96970200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:96933600-96934000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:96933600-96934000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:96933600-96934000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:96933600-96934200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:96933600-96934200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:96933600-96934200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:96933600-96934200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:96933600-96934200	Weak transcription	Stomach Mucosa	stomach

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