Variant report

Variant	rs4833571
Chromosome Location	chr4:119204720-119204721
allele	A/C
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	chr4:119202026..119204755-chr4:119234845..119237518,2	K562	blood:
2	chr4:119203107..119204867-chr4:119240756..119242406,2	K562	blood:
3	chr4:119203891..119206075-chr4:119600077..119602482,2	K562	blood:
4	chr4:119202799..119206241-chr4:119218807..119222777,4	MCF-7	breast:
5	chr4:119200823..119205436-chr4:119252231..119259407,8	K562	blood:
6	chr4:119203054..119205344-chr4:119252768..119255256,2	MCF-7	breast:
7	chr4:119204030..119205775-chr4:119295374..119296879,2	K562	blood:
8	chr4:119203588..119205847-chr4:119243222..119244861,2	MCF-7	breast:
9	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
10	chr4:119202174..119205868-chr4:119258505..119262976,4	MCF-7	breast:
11	chr4:119203944..119207755-chr4:119250346..119253066,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164099	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11098433	0.91[CEU][hapmap]
rs13120959	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1523742	1.00[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030635	0.91[EUR][1000 genomes]
rs2292597	0.87[EUR][1000 genomes]
rs2389618	0.95[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28517808	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107483	0.87[GIH][hapmap]
rs3805189	0.89[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3828500	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs582448	0.83[LWK][hapmap];0.82[YRI][hapmap]
rs586073	0.85[YRI][hapmap]
rs617140	0.86[YRI][hapmap]
rs627249	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs631271	0.87[GIH][hapmap]
rs7697292	0.82[CEU][hapmap];0.83[JPT][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs788655	0.85[YRI][hapmap]
rs788662	0.86[YRI][hapmap]
rs788663	0.87[GIH][hapmap]
rs788668	0.86[YRI][hapmap]
rs883686	0.96[CEU][hapmap];0.98[GIH][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription 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
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4833571	SNHG8	cis	Heart Left Ventricle	GTEx
rs4833571	SNHG8	cis	Muscle Skeletal	GTEx
rs4833571	SNHG8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119200800-119212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119201000-119205600	Weak transcription	Aorta	Aorta
3	chr4:119201400-119205400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:119201400-119206200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:119201400-119207400	Weak transcription	Esophagus	oesophagus
6	chr4:119201400-119216200	Weak transcription	Lung	lung
7	chr4:119201400-119223800	Weak transcription	Gastric	stomach
8	chr4:119201600-119204800	Weak transcription	Colonic Mucosa	Colon
9	chr4:119201800-119205200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:119202000-119204800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:119202000-119205400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:119202200-119204800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:119202200-119204800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:119202200-119205400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:119202200-119205600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:119202200-119205800	Enhancers	Liver	Liver
17	chr4:119202200-119208800	Weak transcription	Thymus	Thymus
18	chr4:119202200-119209400	Weak transcription	Fetal Stomach	stomach
19	chr4:119202200-119210800	Weak transcription	Brain Angular Gyrus	brain
20	chr4:119202200-119211600	Weak transcription	Brain Germinal Matrix	brain
21	chr4:119202200-119225000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:119202400-119206000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:119202400-119220800	Weak transcription	Fetal Brain Female	brain
24	chr4:119202600-119205200	Strong transcription	Primary B cells from cord blood	blood
25	chr4:119202600-119205200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:119202600-119205400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:119202600-119205600	Strong transcription	Fetal Thymus	thymus
28	chr4:119202600-119207000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:119202600-119207000	Weak transcription	Psoas Muscle	Psoas
30	chr4:119202600-119207200	Weak transcription	Right Ventricle	heart
31	chr4:119202800-119205600	Weak transcription	Dnd41	blood
32	chr4:119202800-119206000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
34	chr4:119203000-119204800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr4:119203000-119210600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:119203200-119204800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:119203200-119205200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:119203400-119204800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:119203400-119204800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:119203400-119204800	Weak transcription	GM12878-XiMat	blood
41	chr4:119203400-119204800	Enhancers	NHDF-Ad	bronchial
42	chr4:119203400-119204800	Enhancers	Osteobl	bone
43	chr4:119203400-119205200	Weak transcription	Ovary	ovary
44	chr4:119203400-119205400	Weak transcription	Adipose Nuclei	Adipose
45	chr4:119203400-119205600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:119203400-119205600	Weak transcription	Fetal Intestine Small	intestine
47	chr4:119203400-119207200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:119203400-119207600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:119203400-119208400	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:119203400-119212400	Weak transcription	Left Ventricle	heart

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