Variant report

Variant	rs67072967
Chromosome Location	chr1:75167477-75167478
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	chr1:75166184..75168158-chr1:75197288..75199350,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116791	Chromatin interaction
ENSG00000162623	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17552114	0.87[EUR][1000 genomes]
rs17552134	0.87[EUR][1000 genomes]
rs17617240	0.87[EUR][1000 genomes]
rs67975966	0.87[EUR][1000 genomes]
rs68188053	0.87[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75141800-75179600	Weak transcription	Aorta	Aorta
2	chr1:75156000-75167600	Weak transcription	Liver	Liver
3	chr1:75156000-75183400	Weak transcription	Fetal Heart	heart
4	chr1:75156200-75167800	Weak transcription	Fetal Lung	lung
5	chr1:75156200-75168000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:75156200-75168200	Weak transcription	Ovary	ovary
7	chr1:75156200-75169200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:75156200-75169200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:75159000-75167600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:75159400-75187400	Weak transcription	NHEK	skin
11	chr1:75159600-75168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:75159800-75176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:75160000-75168000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:75160000-75168000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:75160000-75168200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:75160000-75169200	Weak transcription	Osteobl	bone
17	chr1:75160000-75169600	Weak transcription	A549	lung
18	chr1:75160000-75169600	Weak transcription	HMEC	breast
19	chr1:75160000-75170200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:75160000-75171000	Weak transcription	NH-A	brain
21	chr1:75161400-75171800	Weak transcription	HepG2	liver
22	chr1:75162200-75167800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:75162200-75168200	Weak transcription	Left Ventricle	heart
24	chr1:75163800-75168200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:75163800-75168600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:75164000-75176600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:75164000-75176600	Weak transcription	Fetal Stomach	stomach
28	chr1:75164200-75178600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:75164600-75169400	Weak transcription	Primary B cells from cord blood	blood
30	chr1:75164800-75167800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:75164800-75178400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:75165000-75176600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:75165200-75167800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:75165200-75169000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:75165400-75167800	Weak transcription	GM12878-XiMat	blood
36	chr1:75165400-75168200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:75165600-75167800	Weak transcription	Fetal Kidney	kidney
38	chr1:75165600-75168000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:75165800-75168000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:75166000-75167800	Weak transcription	Adipose Nuclei	Adipose
41	chr1:75166000-75167800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:75166200-75167600	Weak transcription	NHDF-Ad	bronchial
43	chr1:75166200-75167800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:75166200-75168000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:75166200-75169800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:75166200-75183800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:75166400-75168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:75166400-75168200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:75166400-75168200	Weak transcription	Primary T cells from cord blood	blood
50	chr1:75166400-75169000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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