Variant report

Variant	rs34961977
Chromosome Location	chr1:113044491-113044492
allele	G/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113043664..113046316-chr1:113246773..113250102,3	K562	blood:
2	chr1:113042799..113045206-chr1:113056989..113060717,3	MCF-7	breast:
3	chr1:113044125..113045114-chr1:113156151..113157755,13	MCF-7	breast:
4	chr1:113038165..113040029-chr1:113043903..113046113,2	MCF-7	breast:
5	chr1:113043596..113046525-chr1:113046998..113048803,2	K562	blood:
6	chr1:113042549..113044879-chr1:113047286..113049813,2	MCF-7	breast:
7	chr1:113044160..113045084-chr1:113249254..113250612,4	K562	blood:
8	chr1:113044387..113046932-chr1:113047303..113049835,3	K562	blood:
9	chr1:113044204..113044716-chr1:113249848..113250491,2	MCF-7	breast:
10	chr1:113043050..113044804-chr1:113159767..113162652,3	MCF-7	breast:
11	chr1:113044372..113046496-chr1:113155425..113157042,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000134245	Chromatin interaction
ENSG00000155366	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12722725	1.00[ASN][1000 genomes]
rs12722910	1.00[ASN][1000 genomes]
rs12724682	1.00[ASN][1000 genomes]
rs12727145	1.00[ASN][1000 genomes]
rs12729635	1.00[ASN][1000 genomes]
rs12736457	1.00[ASN][1000 genomes]
rs12737053	1.00[ASN][1000 genomes]
rs34611728	1.00[ASN][1000 genomes]
rs34731458	1.00[ASN][1000 genomes]
rs34989396	1.00[ASN][1000 genomes]
rs35119735	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs351366	1.00[ASN][1000 genomes]
rs35735679	1.00[ASN][1000 genomes]
rs35947845	1.00[ASN][1000 genomes]
rs35995150	1.00[ASN][1000 genomes]
rs36087180	1.00[ASN][1000 genomes]
rs61818824	1.00[ASN][1000 genomes]
rs61818825	1.00[ASN][1000 genomes]
rs6688050	1.00[ASN][1000 genomes]
rs71644398	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1008375	chr1:113028271-113060221	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113043800-113045400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr1:113044000-113044800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:113044200-113044600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:113044200-113044600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
5	chr1:113044200-113044600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr1:113044200-113044600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:113044200-113044600	Flanking Active TSS	Brain Angular Gyrus	brain
8	chr1:113044200-113044600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:113044200-113044600	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr1:113044200-113044800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:113044200-113044800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:113044200-113044800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:113044200-113044800	Enhancers	Fetal Heart	heart
14	chr1:113044200-113044800	Flanking Active TSS	Osteobl	bone
15	chr1:113044200-113045000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:113044200-113045000	Flanking Active TSS	HMEC	breast
17	chr1:113044200-113045000	Active TSS	HSMM	muscle
18	chr1:113044200-113045200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:113044200-113045200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr1:113044200-113045200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:113044200-113045200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:113044200-113045200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:113044200-113045200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:113044200-113045200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:113044200-113045200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:113044200-113045200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr1:113044200-113045200	Flanking Active TSS	HUVEC	blood vessel
28	chr1:113044200-113045400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:113044200-113045400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
30	chr1:113044200-113045400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr1:113044200-113045400	Active TSS	Brain Hippocampus Middle	brain
32	chr1:113044200-113045400	Active TSS	Hela-S3	cervix
33	chr1:113044200-113045600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:113044400-113044600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:113044400-113044600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr1:113044400-113044600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr1:113044400-113044600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:113044400-113044600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
39	chr1:113044400-113044600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:113044400-113044600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:113044400-113044600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr1:113044400-113044600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
43	chr1:113044400-113044600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr1:113044400-113044600	Bivalent/Poised TSS	Fetal Lung	lung
45	chr1:113044400-113044600	Enhancers	Placenta	Placenta
46	chr1:113044400-113044600	Flanking Active TSS	Psoas Muscle	Psoas
47	chr1:113044400-113044600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:113044400-113044600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr1:113044400-113044600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr1:113044400-113044600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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