Variant report

Variant	rs34378309
Chromosome Location	chr4:110748545-110748546
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:110747401-110748982	K562	blood:	n/a	n/a
2	POLR2A	chr4:110748410-110748758	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:110736448..110738364-chr4:110748018..110749742,2	MCF-7	breast:
2	chr4:110349880..110352137-chr4:110747017..110748778,2	K562	blood:
3	chr4:110746853..110748565-chr4:110758784..110761591,2	K562	blood:

Variant related genes	Relation type
RRH	TF binding region
ENSG00000109534	Chromatin interaction
ENSG00000272795	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10020617	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10022841	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10516559	0.83[EUR][1000 genomes]
rs11098049	0.81[ASN][1000 genomes]
rs12498239	0.86[ASN][1000 genomes]
rs12500239	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12504835	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508179	0.86[ASN][1000 genomes]
rs12510851	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12513108	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12643147	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644142	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13109228	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13112387	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13115969	0.86[ASN][1000 genomes]
rs13128244	0.83[EUR][1000 genomes]
rs13129185	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13140289	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13141065	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13150454	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1860130	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2078040	0.86[ASN][1000 genomes]
rs2347130	0.86[ASN][1000 genomes]
rs2347131	0.86[ASN][1000 genomes]
rs2347132	0.85[ASN][1000 genomes]
rs2347133	0.86[ASN][1000 genomes]
rs34377477	0.83[EUR][1000 genomes]
rs34706258	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34717063	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34734592	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35426158	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36101562	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3775961	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4353905	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4422417	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4610335	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698749	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4698750	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4698795	0.83[EUR][1000 genomes]
rs62324955	0.83[EUR][1000 genomes]
rs6814655	0.86[ASN][1000 genomes]
rs6814743	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816185	0.86[ASN][1000 genomes]
rs6841737	0.86[ASN][1000 genomes]
rs6842245	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6858351	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7442158	0.89[EUR][1000 genomes]
rs7657133	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7678178	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7684459	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7698794	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9993509	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv3365024	chr4:110748421-110748545	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
2	chr4:110737800-110753200	Weak transcription	Lung	lung
3	chr4:110738000-110760800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:110738400-110748600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:110738400-110757200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:110738800-110748600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:110739000-110749800	Weak transcription	NHLF	lung
8	chr4:110739200-110748600	Strong transcription	HSMM	muscle
9	chr4:110741000-110753000	Weak transcription	Left Ventricle	heart
10	chr4:110742200-110753000	Weak transcription	Fetal Kidney	kidney
11	chr4:110742200-110764400	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:110742600-110752400	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:110744000-110748600	Weak transcription	Pancreas	Pancrea
14	chr4:110744000-110759600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:110744400-110748600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:110744400-110750600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:110744400-110774400	Weak transcription	Psoas Muscle	Psoas
18	chr4:110744600-110748600	Weak transcription	GM12878-XiMat	blood
19	chr4:110744600-110749200	Weak transcription	Brain Anterior Caudate	brain
20	chr4:110744600-110749800	Weak transcription	NHEK	skin
21	chr4:110744600-110751000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:110744600-110751400	Weak transcription	A549	lung
23	chr4:110744600-110773200	Weak transcription	Primary T cells from cord blood	blood
24	chr4:110744800-110750400	Weak transcription	Fetal Intestine Large	intestine
25	chr4:110746200-110751800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:110746400-110764000	Weak transcription	Primary B cells from cord blood	blood
27	chr4:110746600-110750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:110746600-110750200	Weak transcription	Fetal Lung	lung
29	chr4:110746600-110761200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:110746800-110748600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:110746800-110748600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:110746800-110749800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:110746800-110749800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:110746800-110750400	Weak transcription	HUVEC	blood vessel
35	chr4:110746800-110751600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:110746800-110752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:110746800-110752400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:110746800-110753000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:110746800-110759400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:110746800-110767600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:110747000-110748600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:110747000-110748600	Weak transcription	Fetal Brain Female	brain
43	chr4:110747000-110748600	Weak transcription	HMEC	breast
44	chr4:110747000-110748600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr4:110747000-110748800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:110747000-110748800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:110747000-110748800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:110747000-110748800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:110747000-110748800	Weak transcription	Osteobl	bone
50	chr4:110747000-110749200	Weak transcription	Primary monocytes fromperipheralblood	blood

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