Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:209420639..209424280-chr1:209607063..209609877,4	MCF-7	breast:
2	chr1:209422487..209426299-chr1:209601741..209606190,3	MCF-7	breast:
3	chr1:209422329..209425233-chr1:209428523..209430136,2	MCF-7	breast:
4	chr1:209422633..209423473-chr1:209527733..209528276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

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

rs_ID	r²[population]
rs1395754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2174778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2843174	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2843175	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970559	1.00[EUR][1000 genomes]
rs74155435	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209421200-209423600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:209421200-209424000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:209421400-209424200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr1:209421600-209423600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:209421600-209426600	Enhancers	Fetal Brain Male	brain
6	chr1:209421800-209426200	Enhancers	Fetal Brain Female	brain
7	chr1:209422000-209423400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:209422200-209423400	Enhancers	HSMM	muscle
9	chr1:209422400-209423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:209422400-209423800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:209422400-209423800	Enhancers	Fetal Stomach	stomach
12	chr1:209422400-209424000	Enhancers	Fetal Heart	heart
13	chr1:209422400-209424000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:209422400-209424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:209422600-209423400	Enhancers	Fetal Lung	lung
16	chr1:209422600-209424800	Enhancers	Brain Germinal Matrix	brain
17	chr1:209422800-209423800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:209422800-209424000	Weak transcription	HMEC	breast
19	chr1:209423000-209424000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:209423000-209424000	Weak transcription	Hela-S3	cervix

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