Variant report

Variant	rs41435251
Chromosome Location	chr4:148849128-148849129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:60771041..60771603-chr4:148849105..148849605,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000245534	Chromatin interaction
ENSG00000128915	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10010996	1.00[EUR][1000 genomes]
rs10012122	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10213616	1.00[EUR][1000 genomes]
rs10519914	1.00[TSI][hapmap]
rs10519932	1.00[EUR][1000 genomes]
rs1436492	1.00[EUR][1000 genomes]
rs17023827	1.00[EUR][1000 genomes]
rs17023950	1.00[EUR][1000 genomes]
rs17023959	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17024108	1.00[EUR][1000 genomes]
rs17024163	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17024360	1.00[TSI][hapmap]
rs17024397	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28371967	1.00[EUR][1000 genomes]
rs28647457	1.00[EUR][1000 genomes]
rs4835111	1.00[ASW][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs5536	1.00[TSI][hapmap]
rs55689306	1.00[EUR][1000 genomes]
rs56742479	1.00[EUR][1000 genomes]
rs58776118	1.00[EUR][1000 genomes]
rs59129054	1.00[EUR][1000 genomes]
rs59222333	1.00[EUR][1000 genomes]
rs59845678	1.00[EUR][1000 genomes]
rs6813344	1.00[EUR][1000 genomes]
rs6815620	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6848211	1.00[EUR][1000 genomes]
rs72957764	1.00[EUR][1000 genomes]
rs72957767	1.00[EUR][1000 genomes]
rs72957792	1.00[EUR][1000 genomes]
rs731989	1.00[EUR][1000 genomes]
rs73853711	1.00[EUR][1000 genomes]
rs7661589	1.00[EUR][1000 genomes]
rs7663257	1.00[EUR][1000 genomes]
rs7683313	1.00[TSI][hapmap]
rs7699281	1.00[EUR][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	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
2	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
4	chr4:148797400-148879600	Weak transcription	Gastric	stomach
5	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
6	chr4:148820600-148861200	Weak transcription	Esophagus	oesophagus
7	chr4:148824400-148854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148824600-148854400	Weak transcription	Right Ventricle	heart
9	chr4:148825400-148861200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:148825400-148865800	Weak transcription	Fetal Lung	lung
11	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
12	chr4:148827400-148861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:148829400-148864200	Weak transcription	Primary T cells from cord blood	blood
14	chr4:148832200-148854400	Weak transcription	NHEK	skin
15	chr4:148833600-148877400	Weak transcription	Small Intestine	intestine
16	chr4:148834800-148861400	Weak transcription	Fetal Intestine Large	intestine
17	chr4:148835000-148867200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:148835000-148869000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:148835600-148854400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:148836400-148861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:148836600-148867000	Weak transcription	HMEC	breast
22	chr4:148837600-148850600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:148837800-148854400	Weak transcription	Left Ventricle	heart
24	chr4:148838400-148858400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:148838800-148849400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:148838800-148854400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:148840200-148853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:148843400-148854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:148843400-148854400	Weak transcription	HSMMtube	muscle
30	chr4:148844600-148850000	Weak transcription	Fetal Brain Male	brain
31	chr4:148846600-148849400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:148846800-148849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:148846800-148849200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr4:148846800-148853600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:148847000-148854800	Weak transcription	Fetal Kidney	kidney
36	chr4:148847200-148849200	Weak transcription	Stomach Mucosa	stomach
37	chr4:148847200-148849400	Strong transcription	HSMM	muscle
38	chr4:148847400-148877200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:148848000-148849800	Strong transcription	GM12878-XiMat	blood
40	chr4:148848200-148849600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:148848200-148850200	Strong transcription	Adipose Nuclei	Adipose
42	chr4:148848400-148849200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:148848400-148849200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:148848400-148849200	Strong transcription	Ovary	ovary
45	chr4:148848400-148849600	Enhancers	Right Atrium	heart
46	chr4:148848400-148849600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:148848400-148849600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:148848400-148850200	Enhancers	Fetal Heart	heart
49	chr4:148848400-148850200	Enhancers	HUVEC	blood vessel
50	chr4:148848400-148850600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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