Variant report

Variant	rs1424670
Chromosome Location	chr1:75171784-75171785
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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:7)

rs_ID	r²[population]
rs45520631	1.00[EUR][1000 genomes]
rs599883	1.00[EUR][1000 genomes]
rs624666	1.00[EUR][1000 genomes]
rs6702137	1.00[EUR][1000 genomes]
rs687021	1.00[EUR][1000 genomes]
rs793569	1.00[EUR][1000 genomes]
rs9783028	1.00[EUR][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	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	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
5	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:102 , 50 per page) page: 1 2 3

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	chr1:75161400-75171800	Weak transcription	HepG2	liver
6	chr1:75164000-75176600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:75164000-75176600	Weak transcription	Fetal Stomach	stomach
8	chr1:75164200-75178600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:75164800-75178400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:75165000-75176600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:75166200-75183800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:75166400-75174600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:75166400-75191400	Weak transcription	Placenta	Placenta
14	chr1:75166600-75182800	Weak transcription	HSMM	muscle
15	chr1:75166600-75194800	Weak transcription	Esophagus	oesophagus
16	chr1:75166800-75171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:75166800-75175200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:75166800-75176600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:75166800-75176600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:75166800-75176600	Weak transcription	Gastric	stomach
21	chr1:75166800-75189200	Weak transcription	Spleen	Spleen
22	chr1:75167000-75181000	Weak transcription	Lung	lung
23	chr1:75167000-75197200	Weak transcription	Right Ventricle	heart
24	chr1:75167200-75178000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:75167400-75181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:75167600-75176800	Weak transcription	NHLF	lung
27	chr1:75167600-75190600	Strong transcription	Liver	Liver
28	chr1:75167600-75190800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:75167800-75171800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:75167800-75172600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:75167800-75172800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:75167800-75173000	Strong transcription	Fetal Lung	lung
33	chr1:75167800-75179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:75167800-75190000	Strong transcription	Adipose Nuclei	Adipose
35	chr1:75168000-75172000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:75168000-75172600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:75168000-75172800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:75168000-75177800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:75168200-75171800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:75168200-75177400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:75168400-75172800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:75168600-75177000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:75168600-75181200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:75168600-75187000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:75168800-75175600	Strong transcription	Fetal Intestine Large	intestine
46	chr1:75168800-75186400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:75169000-75172600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:75169000-75176600	Weak transcription	Pancreas	Pancrea
49	chr1:75169000-75178000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:75169000-75178600	Weak transcription	Colon Smooth Muscle	Colon

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