Variant report

Variant	rs4402127
Chromosome Location	chr1:159917573-159917574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:159915755..159918019-chr1:159923274..159925459,2	K562	blood:
2	chr1:159916092..159918083-chr1:159956004..159957550,2	MCF-7	breast:
3	chr1:159913973..159917644-chr1:159927852..159934070,11	MCF-7	breast:
4	chr1:159914014..159917930-chr1:160000159..160002948,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224259	Chromatin interaction
ENSG00000162723	Chromatin interaction
ENSG00000143315	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2789415	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs2789416	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs2789417	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs2789418	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2789420	0.82[AFR][1000 genomes]
rs2820579	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2820584	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs2840581	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2840583	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs2840586	0.86[AMR][1000 genomes]
rs3001288	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs4297288	0.82[CEU][hapmap]

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	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159915800-159919600	Weak transcription	Lung	lung
2	chr1:159916000-159918800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:159916200-159918000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:159916200-159918800	Weak transcription	K562	blood
5	chr1:159916200-159919000	Weak transcription	A549	lung
6	chr1:159916200-159919800	Enhancers	Fetal Intestine Small	intestine
7	chr1:159916200-159920000	Enhancers	Stomach Mucosa	stomach
8	chr1:159916200-159930600	Weak transcription	Right Atrium	heart
9	chr1:159916600-159918000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:159916600-159918600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:159916600-159918800	Weak transcription	Placenta	Placenta
12	chr1:159916600-159919600	Weak transcription	Colonic Mucosa	Colon
13	chr1:159916600-159920800	Weak transcription	Fetal Lung	lung
14	chr1:159916800-159918600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:159916800-159918800	Weak transcription	Esophagus	oesophagus
16	chr1:159916800-159918800	Weak transcription	Fetal Kidney	kidney
17	chr1:159916800-159918800	Weak transcription	Pancreas	Pancrea
18	chr1:159916800-159919000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:159916800-159919000	Weak transcription	Gastric	stomach
20	chr1:159916800-159919200	Weak transcription	HMEC	breast
21	chr1:159916800-159923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:159917000-159918600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:159917000-159918800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:159917000-159919800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:159917000-159923400	Weak transcription	NHEK	skin
26	chr1:159917200-159917600	Weak transcription	Rectal Mucosa Donor 31	rectum

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