Variant report

Variant	rs851197
Chromosome Location	chr1:223432082-223432083
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223431564..223434363-chr1:223444284..223446683,2	MCF-7	breast:
2	chr1:223424612..223427154-chr1:223429985..223432180,2	MCF-7	breast:
3	chr1:223431021..223433765-chr1:223535205..223536885,2	MCF-7	breast:
4	chr1:223398875..223400534-chr1:223430075..223432511,2	K562	blood:
5	chr1:223431095..223433282-chr1:223435699..223438633,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1417744	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs1640803	1.00[MEX][hapmap]
rs1713218	1.00[ASW][hapmap]
rs17163754	1.00[EUR][1000 genomes]
rs2253649	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs3768284	1.00[MEX][hapmap]
rs5744122	1.00[MEX][hapmap]
rs5744167	1.00[MEX][hapmap]
rs712859	1.00[EUR][1000 genomes]
rs73122211	1.00[EUR][1000 genomes]
rs73122214	1.00[EUR][1000 genomes]
rs73122215	1.00[EUR][1000 genomes]
rs825126	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs851140	1.00[MEX][hapmap]
rs851151	1.00[MEX][hapmap]
rs851195	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851200	0.89[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223423800-223439600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:223424200-223438800	Weak transcription	Ovary	ovary
3	chr1:223427400-223442000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:223428400-223432200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:223431200-223432200	Weak transcription	Pancreas	Pancrea
6	chr1:223431400-223433000	Enhancers	A549	lung
7	chr1:223431400-223433600	Enhancers	Fetal Intestine Large	intestine
8	chr1:223431600-223432400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:223431800-223432200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:223431800-223432600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:223431800-223432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:223431800-223432600	Enhancers	Stomach Mucosa	stomach
13	chr1:223431800-223432600	Enhancers	NHEK	skin
14	chr1:223431800-223433000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:223431800-223433200	Enhancers	Fetal Intestine Small	intestine
16	chr1:223431800-223433400	Weak transcription	Primary T cells from cord blood	blood
17	chr1:223432000-223432400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:223432000-223432400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:223432000-223432600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:223432000-223432600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:223432000-223432600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:223432000-223432600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:223432000-223432600	Enhancers	HMEC	breast
24	chr1:223432000-223432600	Enhancers	K562	blood
25	chr1:223432000-223432600	Enhancers	NH-A	brain
26	chr1:223432000-223432600	Enhancers	NHLF	lung
27	chr1:223432000-223433200	Enhancers	Esophagus	oesophagus

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