Variant report

Variant	rs2935148
Chromosome Location	chr1:227790751-227790752
allele	A/G
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	chr1:227790733-227790909	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227789234..227791365-chr1:227793574..227795115,2	K562	blood:
2	chr1:227788387..227792001-chr1:227793458..227797265,5	K562	blood:

Variant related genes	Relation type
ENSG00000225934	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10159323	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10916168	0.82[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1390402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1587156	0.80[AFR][1000 genomes]
rs1817929	1.00[AMR][1000 genomes]
rs1826774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1874372	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029838	0.86[LWK][hapmap]
rs2313246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453681	0.86[LWK][hapmap]
rs2492633	1.00[AMR][1000 genomes]
rs2644142	1.00[AMR][1000 genomes]
rs2814062	1.00[AMR][1000 genomes]
rs2814065	0.86[LWK][hapmap]
rs2819495	1.00[ASW][hapmap];0.93[LWK][hapmap]
rs2819497	1.00[AMR][1000 genomes]
rs2819505	0.86[LWK][hapmap];0.86[MKK][hapmap]
rs2935150	0.80[AFR][1000 genomes]
rs2935151	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2999738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2999739	1.00[AFR][1000 genomes]
rs2999747	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4653513	1.00[AMR][1000 genomes]
rs6426466	0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426467	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662898	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521659	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7540705	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs903696	1.00[ASW][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];1.00[AMR][1000 genomes]
rs976960	0.82[ASW][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];1.00[AMR][1000 genomes]
rs9943170	0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227774800-227799200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:227774800-227805000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:227779200-227799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:227781200-227800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:227784000-227798800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:227784000-227799600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:227784200-227793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:227784200-227797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:227784400-227794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:227789600-227793000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr1:227790400-227791200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:227790400-227791400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:227790400-227792200	ZNF genes & repeats	Dnd41	blood
15	chr1:227790400-227792400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr1:227790400-227792400	ZNF genes & repeats	Fetal Lung	lung
17	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:227790600-227790800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:227790600-227790800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:227790600-227790800	ZNF genes & repeats	Aorta	Aorta
21	chr1:227790600-227791000	ZNF genes & repeats	Gastric	stomach
22	chr1:227790600-227791000	Genic enhancers	Ovary	ovary
23	chr1:227790600-227791200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:227790600-227791200	ZNF genes & repeats	Liver	Liver
25	chr1:227790600-227791200	ZNF genes & repeats	Pancreas	Pancrea
26	chr1:227790600-227791400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:227790600-227791400	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr1:227790600-227791400	Enhancers	Left Ventricle	heart
29	chr1:227790600-227791400	Enhancers	Psoas Muscle	Psoas
30	chr1:227790600-227791400	Enhancers	Right Atrium	heart
31	chr1:227790600-227791400	Enhancers	Right Ventricle	heart
32	chr1:227790600-227791400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:227790600-227791600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:227790600-227791600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr1:227790600-227791600	ZNF genes & repeats	Lung	lung
36	chr1:227790600-227792000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:227790600-227792400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
38	chr1:227790600-227792800	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr1:227790600-227792800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr1:227790600-227793000	ZNF genes & repeats	Fetal Stomach	stomach

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