Variant report

Variant	rs1579031
Chromosome Location	chr3:119629921-119629922
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119628793..119630341-chr3:119631140..119633914,2	K562	blood:
2	chr3:119629683..119632180-chr3:119812934..119815456,2	K562	blood:
3	chr3:119628367..119630716-chr3:119632308..119634691,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10511395	0.90[CEU][hapmap]
rs1054191	0.90[CEU][hapmap]
rs11921053	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11929668	0.90[CEU][hapmap]
rs12494560	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13314595	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16830689	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1719889	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1719895	0.84[ASN][1000 genomes]
rs1732165	0.84[ASN][1000 genomes]
rs1732169	0.84[ASN][1000 genomes]
rs1732170	0.82[CEU][hapmap]
rs2037547	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2461827	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28516957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108749	0.84[ASN][1000 genomes]
rs334533	0.82[CEU][hapmap]
rs334535	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334536	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs334559	1.00[CEU][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs334560	0.81[EUR][1000 genomes]
rs334566	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4072520	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438691	0.84[ASN][1000 genomes]
rs4450859	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688043	0.84[ASN][1000 genomes]
rs56126162	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6438555	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs66650215	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6769435	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6770314	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6771023	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6774693	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6775397	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6779828	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6790751	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6795874	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6802301	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6805251	0.81[CEU][hapmap]
rs7613197	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7617372	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620750	0.95[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7624540	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7636600	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7644234	0.82[CEU][hapmap]
rs7649661	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7652172	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9289138	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs968824	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9829763	1.00[CEU][hapmap]
rs9851174	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9859778	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9879992	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119574600-119631600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:119583800-119630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:119597600-119659000	Weak transcription	Gastric	stomach
5	chr3:119608000-119643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:119608200-119639200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:119608600-119630000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:119608600-119630000	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:119609200-119630000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:119611200-119630200	Weak transcription	Psoas Muscle	Psoas
12	chr3:119611200-119643400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
14	chr3:119611400-119630000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:119611400-119630200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:119611400-119630600	Weak transcription	Small Intestine	intestine
17	chr3:119611400-119631000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:119611400-119632200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:119611400-119632200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:119611400-119634600	Weak transcription	Spleen	Spleen
21	chr3:119611400-119642000	Weak transcription	Fetal Brain Male	brain
22	chr3:119611400-119649400	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
24	chr3:119613000-119637400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:119614200-119645200	Weak transcription	K562	blood
26	chr3:119617400-119631000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:119618400-119631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:119618400-119639800	Weak transcription	NHLF	lung
29	chr3:119618600-119630000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:119620600-119635800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr3:119621200-119631000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:119621200-119631400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr3:119621200-119639600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:119621400-119632400	Strong transcription	Primary B cells from cord blood	blood
35	chr3:119621600-119632400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:119621800-119630800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:119621800-119631000	Strong transcription	Dnd41	blood
38	chr3:119621800-119639000	Weak transcription	Fetal Intestine Small	intestine
39	chr3:119622000-119633600	Weak transcription	Colonic Mucosa	Colon
40	chr3:119622200-119640800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:119623400-119631600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:119623800-119630000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:119624600-119634400	Weak transcription	HepG2	liver
44	chr3:119624600-119642200	Weak transcription	Brain Germinal Matrix	brain
45	chr3:119624800-119630200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:119624800-119630400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:119624800-119630600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:119624800-119630800	Weak transcription	Placenta	Placenta
49	chr3:119624800-119635400	Weak transcription	A549	lung
50	chr3:119625000-119631200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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