Variant report

Variant	rs1234609
Chromosome Location	chr5:96214217-96214218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96212491..96215464-chr5:96223042..96225542,2	K562	blood:
2	chr5:96142074..96143978-chr5:96212252..96215087,2	K562	blood:
3	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
4	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
5	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2617443	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2617444	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2617448	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617450	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2927611	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2927612	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96211800-96217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96212200-96217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:96212200-96217000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:96212600-96215400	Weak transcription	Spleen	Spleen
5	chr5:96212600-96215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:96212600-96217000	Weak transcription	Gastric	stomach
7	chr5:96212600-96217200	Weak transcription	Fetal Heart	heart
8	chr5:96212600-96232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:96212800-96215400	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:96212800-96217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:96212800-96220000	Weak transcription	Fetal Stomach	stomach
12	chr5:96213000-96214400	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr5:96213000-96214400	Flanking Active TSS	Dnd41	blood
14	chr5:96213000-96215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:96213000-96215400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:96213000-96215400	Weak transcription	Left Ventricle	heart
17	chr5:96213000-96216400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:96213000-96217000	Weak transcription	Lung	lung
19	chr5:96213000-96217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:96213000-96239000	Weak transcription	Pancreas	Pancrea
21	chr5:96213200-96214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:96213200-96214400	Enhancers	Fetal Intestine Large	intestine
23	chr5:96213200-96215200	Weak transcription	Stomach Mucosa	stomach
24	chr5:96213200-96215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:96213200-96215600	Weak transcription	NH-A	brain
26	chr5:96213200-96215800	Weak transcription	Placenta	Placenta
27	chr5:96213200-96217000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:96213200-96217000	Weak transcription	Psoas Muscle	Psoas
29	chr5:96213200-96217200	Weak transcription	HSMM	muscle
30	chr5:96213200-96217400	Weak transcription	Right Ventricle	heart
31	chr5:96213200-96221600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:96213200-96225200	Weak transcription	Ovary	ovary
33	chr5:96213200-96229200	Weak transcription	Aorta	Aorta
34	chr5:96213400-96214400	Enhancers	HMEC	breast
35	chr5:96213400-96215000	Weak transcription	Fetal Thymus	thymus
36	chr5:96213400-96215200	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:96213400-96215400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:96213400-96215400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:96213400-96215400	Weak transcription	A549	lung
40	chr5:96213400-96215600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:96213400-96215800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:96213400-96216000	Weak transcription	NHDF-Ad	bronchial
43	chr5:96213400-96216200	Weak transcription	K562	blood
44	chr5:96213400-96216200	Weak transcription	Osteobl	bone
45	chr5:96213400-96216800	Weak transcription	Colonic Mucosa	Colon
46	chr5:96213400-96216800	Weak transcription	Fetal Intestine Small	intestine
47	chr5:96213400-96217000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:96213400-96217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:96213400-96217000	Weak transcription	Right Atrium	heart
50	chr5:96213400-96217200	Weak transcription	Colon Smooth Muscle	Colon

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