Variant report

Variant	rs769243
Chromosome Location	chr4:122741807-122741808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122729816..122733946-chr4:122739910..122742297,4	MCF-7	breast:
2	chr4:122719927..122724442-chr4:122741540..122746604,11	MCF-7	breast:
3	chr4:122738481..122743178-chr4:122755904..122760615,4	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1051881	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1803183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs3217767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs3749475	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4075713	1.00[CHD][hapmap]
rs4077754	1.00[ASN][1000 genomes]
rs55685419	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803709	1.00[ASN][1000 genomes]
rs55936221	1.00[ASN][1000 genomes]
rs56030020	1.00[ASN][1000 genomes]
rs56221685	1.00[ASN][1000 genomes]
rs56300111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56370449	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57779372	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58745264	1.00[ASN][1000 genomes]
rs58921436	0.90[ASN][1000 genomes]
rs59268194	1.00[ASN][1000 genomes]
rs60240575	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61180375	1.00[ASN][1000 genomes]
rs61434837	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61665948	1.00[ASN][1000 genomes]
rs6823340	1.00[ASN][1000 genomes]
rs6825926	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6830453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6836544	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838343	0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854295	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6858061	1.00[ASN][1000 genomes]
rs73844293	1.00[ASN][1000 genomes]
rs73844294	1.00[ASN][1000 genomes]
rs73844297	1.00[ASN][1000 genomes]
rs73844298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73847203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73847204	1.00[ASN][1000 genomes]
rs73847205	0.91[ASN][1000 genomes]
rs73847206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684547	0.83[ASN][1000 genomes]
rs769245	1.00[CEU][hapmap]
rs7694815	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic 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 target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122723000-122743600	Weak transcription	Esophagus	oesophagus
2	chr4:122723000-122743600	Weak transcription	Small Intestine	intestine
3	chr4:122723000-122744200	Weak transcription	Gastric	stomach
4	chr4:122723000-122744600	Weak transcription	Aorta	Aorta
5	chr4:122723200-122743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:122723200-122743600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:122723200-122743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:122723400-122744200	Weak transcription	Stomach Mucosa	stomach
9	chr4:122723600-122742200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:122723600-122742400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:122723600-122742800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:122723800-122742200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:122723800-122742400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:122723800-122743000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:122723800-122743000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:122723800-122743000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:122724000-122742600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:122724000-122743400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr4:122724200-122742800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:122724400-122742200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:122724400-122742600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:122724400-122744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:122724600-122742000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:122725400-122742600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:122725400-122742600	Strong transcription	Fetal Thymus	thymus
26	chr4:122730200-122744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:122730400-122742400	Strong transcription	HMEC	breast
28	chr4:122730400-122743800	Weak transcription	Spleen	Spleen
29	chr4:122730600-122744200	Weak transcription	Lung	lung
30	chr4:122731200-122742600	Strong transcription	Fetal Brain Female	brain
31	chr4:122731400-122743600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:122732000-122742400	Weak transcription	Fetal Intestine Small	intestine
33	chr4:122733200-122744200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:122734000-122744000	Weak transcription	Pancreas	Pancrea
35	chr4:122735200-122744400	Weak transcription	Psoas Muscle	Psoas
36	chr4:122735200-122744400	Weak transcription	Right Ventricle	heart
37	chr4:122736800-122742600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:122737200-122743800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:122737400-122743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:122737400-122744000	Weak transcription	Colonic Mucosa	Colon
41	chr4:122737400-122744000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:122737800-122742400	Strong transcription	A549	lung
43	chr4:122737800-122743400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:122738000-122742800	Weak transcription	Fetal Kidney	kidney
45	chr4:122738200-122742000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr4:122738200-122742400	Genic enhancers	NHDF-Ad	bronchial
47	chr4:122738400-122742800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:122738400-122743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:122738400-122744000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:122738800-122743200	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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