Variant report

Variant	rs6744203
Chromosome Location	chr2:10047507-10047508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10039201..10042198-chr2:10045779..10048080,2	MCF-7	breast:
2	chr2:10036109..10038742-chr2:10044743..10047677,2	K562	blood:
3	chr2:10045993..10047524-chr2:10050988..10053341,2	K562	blood:
4	chr2:10045831..10047655-chr2:10091725..10093739,2	MCF-7	breast:
5	chr2:10047372..10050689-chr2:10052531..10055799,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12612554	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1652684	0.83[AFR][1000 genomes]
rs287998	0.85[AFR][1000 genomes]
rs288000	0.90[AFR][1000 genomes]
rs288001	0.83[AFR][1000 genomes]
rs366852	0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs379396	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs385513	0.83[AFR][1000 genomes]
rs386006	0.82[AFR][1000 genomes]
rs393281	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs396190	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs396416	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs400098	0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs400362	0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs403303	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs406546	0.82[AFR][1000 genomes]
rs417748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs419453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs446907	0.97[AFR][1000 genomes]
rs448327	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv1009210	chr2:10030072-10052257	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1006533	chr2:10030964-10065624	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1004743	chr2:10031389-10065624	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1005938	chr2:10043181-10074384	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1003855	chr2:10045055-10059844	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9993800-10079600	Weak transcription	Gastric	stomach
2	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
4	chr2:10024400-10053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:10024800-10047600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:10024800-10051400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:10025000-10053800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:10025000-10053800	Weak transcription	Ovary	ovary
9	chr2:10025000-10054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:10025000-10054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:10025000-10054400	Weak transcription	Spleen	Spleen
12	chr2:10025400-10052600	Weak transcription	Left Ventricle	heart
13	chr2:10026000-10072800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:10027400-10052200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:10027400-10053400	Weak transcription	Fetal Brain Male	brain
16	chr2:10027600-10052000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:10028200-10051000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:10028200-10053800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:10030400-10077200	Weak transcription	Aorta	Aorta
20	chr2:10030600-10080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:10033000-10052800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:10036000-10065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:10036400-10047800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:10036400-10052200	Weak transcription	Liver	Liver
25	chr2:10036600-10047600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:10036600-10076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:10036800-10051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:10036800-10073000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:10037200-10051800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:10037200-10080400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:10037800-10075600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:10038000-10049800	Weak transcription	K562	blood
33	chr2:10038000-10052600	Weak transcription	Fetal Kidney	kidney
34	chr2:10038000-10052800	Weak transcription	HUVEC	blood vessel
35	chr2:10038000-10053000	Weak transcription	Adipose Nuclei	Adipose
36	chr2:10038000-10053600	Weak transcription	Fetal Lung	lung
37	chr2:10038000-10053800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:10038400-10048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:10038400-10051400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:10038400-10051400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:10038400-10053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:10038400-10053800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:10038400-10053800	Weak transcription	GM12878-XiMat	blood
44	chr2:10038400-10054400	Weak transcription	NHLF	lung
45	chr2:10038400-10054600	Weak transcription	Fetal Brain Female	brain
46	chr2:10038600-10048800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:10038600-10049000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:10038600-10049400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:10038600-10049400	Weak transcription	HSMMtube	muscle
50	chr2:10038600-10052800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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