Variant report

Variant	rs998315
Chromosome Location	chr1:114348156-114348157
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114299841..114303516-chr1:114345652..114349998,8	MCF-7	breast:
2	chr1:114332999..114335682-chr1:114345986..114348976,2	K562	blood:
3	chr1:114337375..114338962-chr1:114346569..114348868,2	K562	blood:
4	chr1:114346964..114349698-chr1:114471550..114473214,2	MCF-7	breast:
5	chr1:114336082..114338962-chr1:114345301..114348868,4	K562	blood:
6	chr1:114339066..114343299-chr1:114345760..114348770,4	K562	blood:
7	chr1:114323280..114325938-chr1:114345908..114348853,2	MCF-7	breast:
8	chr1:114300208..114303204-chr1:114345927..114349576,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163349	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000235527	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11102659	1.00[ASN][1000 genomes]
rs11102679	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102680	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060671	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12063602	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064048	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072840	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086911	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094849	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1592335	1.00[ASN][1000 genomes]
rs34639107	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55946257	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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:114327400-114348800	Weak transcription	Spleen	Spleen
6	chr1:114327400-114351200	Weak transcription	Fetal Brain Male	brain
7	chr1:114329200-114353600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:114332400-114353400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:114336000-114351200	Weak transcription	Fetal Brain Female	brain
10	chr1:114336200-114351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:114336200-114351200	Weak transcription	HMEC	breast
12	chr1:114336800-114348400	Weak transcription	Fetal Stomach	stomach
13	chr1:114336800-114349400	Weak transcription	Lung	lung
14	chr1:114337200-114352600	Weak transcription	Fetal Kidney	kidney
15	chr1:114340000-114351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:114340400-114352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:114340600-114348400	Weak transcription	Brain Germinal Matrix	brain
18	chr1:114340600-114349400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:114340600-114351400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:114340600-114351400	Weak transcription	Aorta	Aorta
21	chr1:114340600-114351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:114340600-114351800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:114340600-114351800	Weak transcription	Thymus	Thymus
24	chr1:114340600-114353400	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:114340800-114349400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:114340800-114352600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:114340800-114352800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:114341600-114351200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:114341800-114348200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:114341800-114348800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:114342000-114350600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:114342000-114351000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:114342000-114352600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:114342200-114351800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:114343800-114348400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:114344000-114351200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:114344400-114351800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:114345400-114348600	Enhancers	Primary T cells from cord blood	blood
39	chr1:114345800-114348400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:114345800-114348600	Enhancers	Small Intestine	intestine
41	chr1:114345800-114351800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:114346000-114348400	Enhancers	Stomach Mucosa	stomach
43	chr1:114346200-114351400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:114346400-114348200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:114346600-114348200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:114346600-114348200	Enhancers	Hela-S3	cervix
47	chr1:114346800-114349200	Enhancers	HepG2	liver
48	chr1:114346800-114349400	Weak transcription	Left Ventricle	heart
49	chr1:114346800-114349400	Weak transcription	Pancreas	Pancrea
50	chr1:114346800-114352400	Weak transcription	Colonic Mucosa	Colon

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