Variant report

Variant	rs68188053
Chromosome Location	chr1:75170663-75170664
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	chr1:75165629..75168544-chr1:75168897..75171535,2	K562	blood:
2	chr1:75169904..75171834-chr1:75191758..75194711,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17552114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17552134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60887187	0.88[EUR][1000 genomes]
rs67072967	0.87[EUR][1000 genomes]
rs67975966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762153	chr1:75142205-75171211	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv871152	chr1:75152186-75197533	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75141800-75179600	Weak transcription	Aorta	Aorta
2	chr1:75156000-75183400	Weak transcription	Fetal Heart	heart
3	chr1:75159400-75187400	Weak transcription	NHEK	skin
4	chr1:75159800-75176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:75160000-75171000	Weak transcription	NH-A	brain
6	chr1:75161400-75171800	Weak transcription	HepG2	liver
7	chr1:75164000-75176600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:75164000-75176600	Weak transcription	Fetal Stomach	stomach
9	chr1:75164200-75178600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:75164800-75178400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:75165000-75176600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:75166200-75183800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:75166400-75174600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:75166400-75191400	Weak transcription	Placenta	Placenta
15	chr1:75166600-75182800	Weak transcription	HSMM	muscle
16	chr1:75166600-75194800	Weak transcription	Esophagus	oesophagus
17	chr1:75166800-75171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:75166800-75175200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:75166800-75176600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:75166800-75176600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:75166800-75176600	Weak transcription	Gastric	stomach
22	chr1:75166800-75189200	Weak transcription	Spleen	Spleen
23	chr1:75167000-75170800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:75167000-75181000	Weak transcription	Lung	lung
25	chr1:75167000-75197200	Weak transcription	Right Ventricle	heart
26	chr1:75167200-75171200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:75167200-75178000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:75167400-75181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:75167600-75176800	Weak transcription	NHLF	lung
30	chr1:75167600-75190600	Strong transcription	Liver	Liver
31	chr1:75167600-75190800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:75167800-75171000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:75167800-75171800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:75167800-75172600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:75167800-75172800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:75167800-75173000	Strong transcription	Fetal Lung	lung
37	chr1:75167800-75179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:75167800-75190000	Strong transcription	Adipose Nuclei	Adipose
39	chr1:75168000-75170800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:75168000-75171400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:75168000-75172000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:75168000-75172600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:75168000-75172800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:75168000-75177800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr1:75168200-75171000	Strong transcription	Left Ventricle	heart
46	chr1:75168200-75171400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:75168200-75171800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:75168200-75177400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:75168400-75172800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr1:75168600-75177000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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