Variant report

Variant	rs1227185
Chromosome Location	chr7:112402630-112402631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112400628..112403193-chr7:112407216..112411112,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf53-5	chr7:112402239-112402812	NONHSAT122800

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10246531	1.00[CEU][hapmap]
rs1227156	0.88[AFR][1000 genomes]
rs1227157	0.88[AFR][1000 genomes]
rs1227160	0.88[AFR][1000 genomes]
rs1227161	0.84[AFR][1000 genomes]
rs1227162	0.88[AFR][1000 genomes]
rs1227165	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs1227166	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs1227167	0.83[AFR][1000 genomes]
rs1227169	0.83[AFR][1000 genomes]
rs1227170	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs1227173	0.86[AFR][1000 genomes]
rs1227175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227179	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227180	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs1227184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227186	0.90[AFR][1000 genomes]
rs1227188	0.90[AFR][1000 genomes]
rs1227189	0.86[AFR][1000 genomes]
rs1227191	0.90[AFR][1000 genomes]
rs1227193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1234894	0.86[AFR][1000 genomes]
rs1620709	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs1718933	0.84[AFR][1000 genomes]
rs1718942	0.90[AFR][1000 genomes]
rs1718943	0.81[AFR][1000 genomes]
rs1718953	0.83[AFR][1000 genomes]
rs1718968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1796496	0.88[AFR][1000 genomes]
rs1796499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1796513	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1796515	0.83[AFR][1000 genomes]
rs2687263	0.84[AFR][1000 genomes]
rs2687268	0.86[AFR][1000 genomes]
rs2708294	0.88[AFR][1000 genomes]
rs4360231	1.00[JPT][hapmap]
rs59930732	0.81[AFR][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112385400-112422400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:112389000-112405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:112389000-112422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:112389200-112412800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:112390200-112422800	Weak transcription	Thymus	Thymus
6	chr7:112391600-112418200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:112394600-112406800	Weak transcription	Fetal Lung	lung
9	chr7:112394600-112407200	Weak transcription	Ovary	ovary
10	chr7:112395200-112422600	Weak transcription	Right Ventricle	heart
11	chr7:112395600-112422400	Weak transcription	Aorta	Aorta
12	chr7:112396000-112407000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:112396000-112407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:112396200-112409000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:112396200-112428600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:112396400-112403400	Weak transcription	Fetal Heart	heart
17	chr7:112397000-112418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:112397000-112428000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:112397400-112422200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:112397600-112429600	Weak transcription	Pancreas	Pancrea
21	chr7:112398000-112407200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:112398000-112408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:112398200-112404600	Weak transcription	Primary T cells from cord blood	blood
24	chr7:112398800-112428800	Weak transcription	Gastric	stomach
25	chr7:112399400-112407000	Weak transcription	Adipose Nuclei	Adipose
26	chr7:112400000-112407200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:112400000-112426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:112400200-112422400	Weak transcription	Left Ventricle	heart
29	chr7:112400200-112429000	Weak transcription	HSMM	muscle
30	chr7:112400400-112408400	Weak transcription	NHEK	skin
31	chr7:112400600-112428600	Weak transcription	Brain Substantia Nigra	brain
32	chr7:112402000-112412200	Weak transcription	Primary B cells from cord blood	blood

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