Variant report

Variant	rs6831823
Chromosome Location	chr4:87954827-87954828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87924739..87931529-chr4:87944789..87955863,16	K562	blood:
2	chr4:87953334..87957046-chr4:87958598..87961763,4	K562	blood:
3	chr4:87944954..87950016-chr4:87950159..87955839,10	K562	blood:
4	chr4:87927091..87929349-chr4:87954392..87957373,2	MCF-7	breast:
5	chr4:87926472..87930256-chr4:87951394..87957719,6	K562	blood:
6	chr4:87950378..87952064-chr4:87953827..87955577,2	MCF-7	breast:
7	chr4:87952663..87956832-chr4:87958320..87961763,4	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1048482	0.89[AFR][1000 genomes]
rs11930536	1.00[AMR][1000 genomes]
rs11937587	1.00[AMR][1000 genomes]
rs11939722	1.00[AMR][1000 genomes]
rs11943683	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11944829	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945169	1.00[ASW][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11947276	1.00[AMR][1000 genomes]
rs17012253	0.90[ASW][hapmap];0.85[LWK][hapmap];0.95[MKK][hapmap];0.93[YRI][hapmap]
rs17012288	1.00[AMR][1000 genomes]
rs28567446	1.00[AMR][1000 genomes]
rs6810606	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs6810840	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs6827682	0.90[ASW][hapmap];0.85[LWK][hapmap];0.95[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs6833094	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6850907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6851927	0.85[AFR][1000 genomes]
rs6856436	1.00[AMR][1000 genomes]
rs6857010	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7659431	1.00[AMR][1000 genomes]
rs7671609	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs7676368	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676669	1.00[AMR][1000 genomes]
rs7677039	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7677287	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690864	1.00[AMR][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	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87944200-87960800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:87944800-87961600	Enhancers	Fetal Heart	heart
3	chr4:87947800-87957200	Weak transcription	Dnd41	blood
4	chr4:87949200-87957400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:87949200-87961000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:87949400-87960600	Enhancers	Liver	Liver
7	chr4:87949600-87955600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:87949600-87960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:87949800-87957400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr4:87949800-87960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:87950000-87955600	Enhancers	Fetal Stomach	stomach
12	chr4:87950000-87955600	Enhancers	Small Intestine	intestine
13	chr4:87950000-87955800	Enhancers	Fetal Intestine Small	intestine
14	chr4:87950000-87958600	Enhancers	Psoas Muscle	Psoas
15	chr4:87950000-87960200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:87950200-87955800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:87950200-87962600	Enhancers	Fetal Muscle Leg	muscle
18	chr4:87950400-87955400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:87950400-87955600	Enhancers	Fetal Kidney	kidney
20	chr4:87950600-87955600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:87951000-87957800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr4:87951200-87956000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:87951200-87956400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:87951600-87955200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:87951600-87956400	Enhancers	Stomach Mucosa	stomach
26	chr4:87951600-87959000	Enhancers	Fetal Intestine Large	intestine
27	chr4:87951800-87955600	Enhancers	HepG2	liver
28	chr4:87951800-87956000	Enhancers	NH-A	brain
29	chr4:87951800-87960400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:87952000-87956200	Enhancers	HMEC	breast
31	chr4:87952200-87957000	Weak transcription	Thymus	Thymus
32	chr4:87952400-87955000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:87952400-87955000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:87952400-87955000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:87952400-87955000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:87952400-87955000	Weak transcription	Esophagus	oesophagus
37	chr4:87952400-87955000	Weak transcription	Gastric	stomach
38	chr4:87952400-87955000	Weak transcription	Lung	lung
39	chr4:87952400-87955000	Weak transcription	Spleen	Spleen
40	chr4:87952400-87955200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:87952400-87955800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:87952400-87956000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:87952400-87956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:87952400-87956800	Weak transcription	Fetal Thymus	thymus
45	chr4:87952400-87957600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:87952400-87957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:87952400-87960000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:87952400-87960400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:87952600-87958800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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