Variant report

Variant	rs1200118
Chromosome Location	chr1:169064630-169064631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169064466..169066505-chr1:169069243..169071923,2	MCF-7	breast:
2	chr1:169057319..169059341-chr1:169064126..169065686,2	K562	blood:
3	chr1:169057841..169060357-chr1:169064186..169066001,2	K562	blood:
4	chr1:169064607..169067333-chr1:169074189..169076862,6	MCF-7	breast:
5	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction
ENSG00000237707	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1200119	0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1200120	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6672876	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169060400-169068000	Weak transcription	Fetal Heart	heart
2	chr1:169062200-169065000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:169062200-169067600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:169063400-169065000	Enhancers	HMEC	breast
5	chr1:169063800-169065200	Enhancers	Brain Hippocampus Middle	brain
6	chr1:169064000-169064800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:169064000-169064800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:169064000-169065000	Enhancers	NHEK	skin
9	chr1:169064000-169065400	Enhancers	Brain Substantia Nigra	brain
10	chr1:169064200-169064800	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:169064200-169064800	Enhancers	Stomach Mucosa	stomach
12	chr1:169064200-169064800	Enhancers	HepG2	liver
13	chr1:169064400-169064800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:169064400-169064800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr1:169064400-169064800	Enhancers	Psoas Muscle	Psoas
16	chr1:169064400-169065200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:169064400-169065200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:169064600-169064800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:169064600-169064800	Enhancers	Fetal Muscle Leg	muscle
20	chr1:169064600-169065000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:169064600-169065400	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:169064600-169065400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:169064600-169068800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:169064600-169069400	Weak transcription	Rectal Mucosa Donor 31	rectum

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