Variant report

Variant	rs2436912
Chromosome Location	chr8:103589045-103589046
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103586549..103589123-chr8:103624960..103627959,2	MCF-7	breast:
2	chr8:103531973..103534873-chr8:103588952..103591472,2	K562	blood:
3	chr8:103588516..103591531-chr8:103594981..103597999,4	K562	blood:
4	chr8:103566130..103569047-chr8:103588313..103590545,3	MCF-7	breast:
5	chr8:103588333..103589875-chr8:103599319..103602205,2	K562	blood:
6	chr8:103575313..103581780-chr8:103582663..103591933,12	MCF-7	breast:
7	chr8:103422101..103424296-chr8:103588950..103591613,2	K562	blood:
8	chr8:103586369..103590138-chr8:103665086..103669436,5	MCF-7	breast:
9	chr8:103582117..103584689-chr8:103587053..103589133,2	K562	blood:
10	chr8:103584563..103586828-chr8:103587776..103589526,2	MCF-7	breast:
11	chr8:103251256..103253139-chr8:103587490..103589217,2	MCF-7	breast:
12	chr8:103588739..103590640-chr8:103597997..103600503,2	MCF-7	breast:
13	chr8:103588718..103591936-chr8:103666685..103669912,4	MCF-7	breast:
14	chr8:103587589..103591283-chr8:103601784..103605142,3	MCF-7	breast:
15	chr8:103586965..103590111-chr8:103818887..103822309,5	MCF-7	breast:
16	chr8:103588260..103591760-chr8:103612435..103616119,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10091076	0.88[ASN][1000 genomes]
rs2012106	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2511741	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734644	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv534151	chr8:103563857-103589862	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active 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 target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103581800-103589200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103582200-103591200	Weak transcription	K562	blood
3	chr8:103584800-103589200	Weak transcription	Spleen	Spleen
4	chr8:103584800-103591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:103585600-103589800	Weak transcription	Osteobl	bone
6	chr8:103587600-103589400	Enhancers	Fetal Lung	lung
7	chr8:103587600-103590000	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:103587600-103590600	Enhancers	Fetal Muscle Leg	muscle
9	chr8:103587600-103592200	Enhancers	Placenta	Placenta
10	chr8:103587800-103589200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:103587800-103590400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:103588200-103589600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:103588200-103589600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:103588200-103589800	Enhancers	Fetal Stomach	stomach
15	chr8:103588200-103590600	Enhancers	Colon Smooth Muscle	Colon
16	chr8:103588400-103589200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:103588400-103589400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:103588400-103589400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:103588400-103589400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:103588400-103589400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr8:103588400-103589400	Enhancers	Fetal Intestine Large	intestine
22	chr8:103588400-103589600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:103588400-103589600	Enhancers	Brain Germinal Matrix	brain
24	chr8:103588400-103589800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:103588400-103589800	Enhancers	Lung	lung
26	chr8:103588400-103590600	Enhancers	Adipose Nuclei	Adipose
27	chr8:103588400-103590800	Enhancers	Fetal Heart	heart
28	chr8:103588400-103590800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:103588400-103591400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:103588600-103589200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:103588600-103589200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr8:103588600-103589400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:103588600-103589400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:103588600-103589400	Enhancers	Brain Anterior Caudate	brain
35	chr8:103588600-103589400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:103588800-103589200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:103588800-103589200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:103588800-103589200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:103588800-103589200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:103588800-103589200	Enhancers	Stomach Mucosa	stomach
41	chr8:103588800-103589200	Enhancers	NHLF	lung
42	chr8:103588800-103589400	Enhancers	Brain Cingulate Gyrus	brain
43	chr8:103588800-103589400	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:103588800-103589400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:103588800-103589800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr8:103588800-103590400	Enhancers	HSMMtube	muscle
47	chr8:103588800-103590600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:103589000-103589200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr8:103589000-103589200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:103589000-103589200	Flanking Active TSS	Brain Substantia Nigra	brain

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