Variant report

Variant	rs72979696
Chromosome Location	chr3:135686157-135686158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135683335..135686243-chr3:135740274..135744209,4	MCF-7	breast:
2	chr3:135678002..135681918-chr3:135682555..135686339,5	MCF-7	breast:
3	chr3:135626053..135627736-chr3:135684595..135686166,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241905	Chromatin interaction
ENSG00000073711	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11918906	1.00[EUR][1000 genomes]
rs11925256	1.00[EUR][1000 genomes]
rs1403765	1.00[AFR][1000 genomes]
rs16843517	1.00[AFR][1000 genomes]
rs16843565	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16843571	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16843592	1.00[EUR][1000 genomes]
rs16843601	1.00[AFR][1000 genomes]
rs16843602	1.00[AFR][1000 genomes]
rs16843633	1.00[EUR][1000 genomes]
rs16843656	1.00[AFR][1000 genomes]
rs16843661	1.00[EUR][1000 genomes]
rs56848754	0.91[AFR][1000 genomes]
rs57374999	1.00[EUR][1000 genomes]
rs57507646	1.00[AFR][1000 genomes]
rs57524286	1.00[AFR][1000 genomes]
rs57539640	1.00[AFR][1000 genomes]
rs57578189	1.00[AFR][1000 genomes]
rs57681844	1.00[AFR][1000 genomes]
rs58030391	1.00[EUR][1000 genomes]
rs58136416	0.83[AFR][1000 genomes]
rs58362057	1.00[AFR][1000 genomes]
rs58619345	1.00[AFR][1000 genomes]
rs59899876	1.00[AFR][1000 genomes]
rs59985031	1.00[AFR][1000 genomes]
rs60165730	1.00[EUR][1000 genomes]
rs60393211	1.00[EUR][1000 genomes]
rs61209689	1.00[EUR][1000 genomes]
rs61216931	1.00[AFR][1000 genomes]
rs72977692	0.81[AFR][1000 genomes]
rs72977699	0.81[AFR][1000 genomes]
rs72977700	0.81[AFR][1000 genomes]
rs72979626	0.91[AFR][1000 genomes]
rs72979633	0.91[AFR][1000 genomes]
rs72979636	0.91[AFR][1000 genomes]
rs72979647	1.00[AFR][1000 genomes]
rs72979686	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72979693	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72979701	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72981430	0.83[AFR][1000 genomes]
rs72981436	1.00[AFR][1000 genomes]
rs72981447	1.00[AFR][1000 genomes]
rs72981448	1.00[AFR][1000 genomes]
rs72981456	1.00[AFR][1000 genomes]
rs72981481	1.00[EUR][1000 genomes]
rs72981494	1.00[EUR][1000 genomes]
rs72981499	1.00[AFR][1000 genomes]
rs72983403	1.00[EUR][1000 genomes]
rs72983409	1.00[EUR][1000 genomes]
rs72983435	1.00[AFR][1000 genomes]
rs72983437	1.00[EUR][1000 genomes]
rs72983449	1.00[EUR][1000 genomes]
rs72983458	1.00[AFR][1000 genomes]
rs72983460	1.00[EUR][1000 genomes]
rs72983467	0.83[AFR][1000 genomes]
rs72983501	1.00[AFR][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	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	esv3374702	chr3:135649303-135686527	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3393718	chr3:135683487-135686235	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135683800-135686200	Active TSS	HSMMtube	muscle
2	chr3:135683800-135687200	Active TSS	Stomach Smooth Muscle	stomach
3	chr3:135684000-135686200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr3:135684000-135686200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr3:135684000-135686200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:135684000-135686200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:135684000-135686200	Active TSS	Fetal Kidney	kidney
8	chr3:135684000-135686400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:135684000-135686400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:135684000-135686400	Active TSS	NHLF	lung
11	chr3:135684000-135686600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr3:135684000-135686600	Active TSS	Right Ventricle	heart
13	chr3:135684000-135687000	Active TSS	Right Atrium	heart
14	chr3:135684200-135686200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:135684200-135686200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr3:135684200-135686200	Active TSS	Fetal Muscle Trunk	muscle
17	chr3:135684200-135686200	Active TSS	Fetal Muscle Leg	muscle
18	chr3:135684200-135686200	Active TSS	NHEK	skin
19	chr3:135684200-135686400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:135684200-135686800	Active TSS	Aorta	Aorta
21	chr3:135685000-135686200	Active TSS	Fetal Brain Male	brain
22	chr3:135685200-135686200	Active TSS	Fetal Brain Female	brain
23	chr3:135685400-135686200	Active TSS	Brain Germinal Matrix	brain
24	chr3:135685400-135686400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:135685400-135686400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:135685400-135692600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:135685600-135686200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr3:135685600-135686200	Flanking Active TSS	HUVEC	blood vessel
29	chr3:135685600-135686400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:135685600-135686400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:135685600-135686400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr3:135685600-135686600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:135685600-135686600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr3:135685600-135686800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr3:135685600-135687000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:135685600-135687000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:135685600-135687200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:135685600-135693800	Weak transcription	Gastric	stomach
39	chr3:135685800-135686200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:135685800-135686200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr3:135685800-135686200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:135685800-135686200	Enhancers	Fetal Lung	lung
43	chr3:135685800-135686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:135685800-135686400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:135685800-135686400	Enhancers	Liver	Liver
46	chr3:135685800-135686400	Flanking Active TSS	Fetal Heart	heart
47	chr3:135685800-135686400	Weak transcription	Psoas Muscle	Psoas
48	chr3:135685800-135686600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:135685800-135686600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:135685800-135686800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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