Variant report

Variant	rs34977988
Chromosome Location	chr3:42634183-42634184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42620803..42625287-chr3:42629964..42635186,7	MCF-7	breast:
2	chr3:42632973..42636724-chr3:42645956..42649361,3	MCF-7	breast:
3	chr3:42629943..42634676-chr3:42635408..42643782,10	MCF-7	breast:
4	chr3:42632553..42639930-chr3:42692933..42696882,8	K562	blood:

Variant related genes	Relation type
ENSG00000114857	Chromatin interaction
ENSG00000008324	Chromatin interaction
ENSG00000093183	Chromatin interaction
ENSG00000114853	Chromatin interaction
ENSG00000230084	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1062051	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13067987	0.81[EUR][1000 genomes]
rs13072295	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13085695	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13089845	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13090902	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13093680	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13095447	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17074662	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17074664	0.82[ASN][1000 genomes]
rs17074669	0.82[ASN][1000 genomes]
rs17074673	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17074674	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17074680	0.82[ASN][1000 genomes]
rs17074693	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2284303	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2284304	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300057	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300058	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2302352	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33969824	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33984028	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34683820	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34687113	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34762478	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34801786	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34852409	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35216140	0.82[EUR][1000 genomes]
rs35676838	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35770315	0.82[ASN][1000 genomes]
rs35871059	0.82[EUR][1000 genomes]
rs35890296	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36033201	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36043081	0.82[EUR][1000 genomes]
rs3774401	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3774402	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3774404	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3774407	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821836	0.85[ASN][1000 genomes]
rs3846058	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3846059	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3856737	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3886782	0.90[ASN][1000 genomes]
rs3900780	0.81[EUR][1000 genomes]
rs56047094	0.82[EUR][1000 genomes]
rs56797870	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57259216	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58868911	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59914338	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60232916	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60348477	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60535002	0.82[EUR][1000 genomes]
rs61149998	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6441928	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66786953	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67059259	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67165547	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67533173	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67583158	0.82[EUR][1000 genomes]
rs6771105	0.82[EUR][1000 genomes]
rs6772312	0.88[ASN][1000 genomes]
rs6778982	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6782164	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67832425	0.82[EUR][1000 genomes]
rs6788548	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6790204	0.81[EUR][1000 genomes]
rs6793186	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6795296	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6797491	0.82[EUR][1000 genomes]
rs68004576	0.82[EUR][1000 genomes]
rs68028490	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68071013	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72864072	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73829255	0.82[EUR][1000 genomes]
rs7617403	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7617736	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7623867	0.81[EUR][1000 genomes]
rs7624628	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42633000-42634600	Enhancers	Fetal Brain Male	brain
2	chr3:42633200-42634200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:42633200-42634600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
4	chr3:42633200-42635600	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr3:42633200-42641400	Weak transcription	Aorta	Aorta
6	chr3:42633200-42641600	Weak transcription	Gastric	stomach
7	chr3:42633400-42634200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:42633400-42634400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:42633400-42634400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:42633400-42634400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr3:42633400-42634800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:42633400-42635000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:42633400-42635000	Weak transcription	Liver	Liver
14	chr3:42633400-42635000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:42633400-42635000	Weak transcription	Left Ventricle	heart
16	chr3:42633400-42635000	Weak transcription	Small Intestine	intestine
17	chr3:42633400-42635400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:42633400-42635400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:42633400-42635400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:42633400-42636400	Strong transcription	Fetal Muscle Leg	muscle
21	chr3:42633400-42641200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:42633400-42641200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:42633400-42641200	Weak transcription	HSMMtube	muscle
24	chr3:42633400-42641400	Weak transcription	Ovary	ovary
25	chr3:42633400-42641400	Weak transcription	Psoas Muscle	Psoas
26	chr3:42633400-42641400	Weak transcription	Right Ventricle	heart
27	chr3:42633400-42641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:42633400-42641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:42633400-42641600	Weak transcription	Esophagus	oesophagus
30	chr3:42633400-42641600	Weak transcription	Spleen	Spleen
31	chr3:42633600-42634200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:42633600-42634200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:42633600-42634200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr3:42633600-42634200	Enhancers	Brain Cingulate Gyrus	brain
35	chr3:42633600-42634200	Weak transcription	Placenta	Placenta
36	chr3:42633600-42634400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:42633600-42634400	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr3:42633600-42634400	Enhancers	HepG2	liver
39	chr3:42633600-42634400	Genic enhancers	HMEC	breast
40	chr3:42633600-42634400	Enhancers	HUVEC	blood vessel
41	chr3:42633600-42634600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:42633600-42634800	Weak transcription	Fetal Stomach	stomach
43	chr3:42633600-42634800	Weak transcription	Fetal Thymus	thymus
44	chr3:42633600-42634800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr3:42633600-42635000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:42633600-42635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:42633600-42635000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr3:42633600-42635000	Weak transcription	Primary B cells from cord blood	blood
49	chr3:42633600-42635000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:42633600-42635000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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