Variant report

Variant	rs6807242
Chromosome Location	chr3:135693943-135693944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135683614..135686835-chr3:135692106..135694532,3	MCF-7	breast:
2	chr3:135693339..135695483-chr3:135697510..135700287,2	MCF-7	breast:
3	chr3:135634384..135636473-chr3:135692724..135694710,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073711	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10048942	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10049233	0.84[ASN][1000 genomes]
rs10512973	1.00[CHB][hapmap]
rs10512981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10935175	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13065499	0.84[YRI][hapmap]
rs13069408	0.89[YRI][hapmap]
rs13072433	0.92[YRI][hapmap]
rs13072596	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082684	0.84[ASN][1000 genomes]
rs13097946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098245	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13325914	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434196	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1403766	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1403770	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1523593	0.89[YRI][hapmap]
rs1523595	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523596	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523597	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568349	0.93[ASN][1000 genomes]
rs1568350	0.82[EUR][1000 genomes]
rs16843509	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17196987	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17250445	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2204259	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28449384	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28570106	0.81[EUR][1000 genomes]
rs28576629	0.84[ASN][1000 genomes]
rs28855968	0.80[EUR][1000 genomes]
rs34311570	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34409306	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34522617	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34767379	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35257855	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35722356	0.81[EUR][1000 genomes]
rs36039354	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4073308	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075999	0.92[YRI][hapmap]
rs56807950	0.93[ASN][1000 genomes]
rs59063369	0.93[ASN][1000 genomes]
rs66544356	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67039922	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771224	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773469	0.93[ASN][1000 genomes]
rs6774289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775778	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6779603	0.93[ASN][1000 genomes]
rs6786769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6802139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6803447	1.00[CHB][hapmap]
rs6803786	0.89[YRI][hapmap]
rs6807058	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6807565	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6809006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810223	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71336046	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73222222	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7427833	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7433567	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7609938	0.93[ASN][1000 genomes]
rs7621331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621396	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7621425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626676	0.93[ASN][1000 genomes]
rs7628848	0.84[ASN][1000 genomes]
rs7638129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7640153	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7641070	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7643661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289502	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808979	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9813082	0.93[ASN][1000 genomes]
rs9814505	0.81[EUR][1000 genomes]
rs9814557	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9819440	0.81[EUR][1000 genomes]
rs9819988	0.93[ASN][1000 genomes]
rs9820189	0.81[EUR][1000 genomes]
rs9824558	0.93[ASN][1000 genomes]
rs9825239	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9826806	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9829476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9833470	1.00[CHB][hapmap]
rs9833799	0.93[ASN][1000 genomes]
rs9834104	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834624	1.00[JPT][hapmap]
rs9836374	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9836758	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9837355	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9839259	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9842840	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9842864	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9843725	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9844478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9846137	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848322	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9849088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9851361	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853577	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9854494	1.00[JPT][hapmap]
rs9862264	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862743	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9862763	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862777	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9864247	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9864514	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864656	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9864775	1.00[JPT][hapmap]
rs9868246	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870581	1.00[JPT][hapmap]
rs9872542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875328	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875948	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs9876837	0.93[ASN][1000 genomes]
rs9877082	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880721	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883808	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135686600-135694400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:135687600-135694000	Enhancers	Colon Smooth Muscle	Colon
3	chr3:135687600-135700400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:135688000-135694200	Enhancers	Brain Hippocampus Middle	brain
5	chr3:135688800-135694200	Enhancers	Brain Substantia Nigra	brain
6	chr3:135689400-135695200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:135690200-135694200	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:135690200-135701200	Weak transcription	NHEK	skin
9	chr3:135690200-135701400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:135690400-135694000	Weak transcription	HMEC	breast
11	chr3:135690400-135700800	Weak transcription	HSMM	muscle
12	chr3:135691000-135699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:135691200-135699600	Weak transcription	Ovary	ovary
14	chr3:135691600-135694200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:135691600-135694200	Enhancers	Brain Angular Gyrus	brain
16	chr3:135691600-135694400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:135692200-135694000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:135692200-135694200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:135692200-135694200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:135692200-135694200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:135692200-135694200	Enhancers	Psoas Muscle	Psoas
22	chr3:135692400-135694000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:135692400-135694400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:135692600-135694000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:135692600-135694000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:135692600-135694000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:135692600-135694200	Enhancers	Brain Cingulate Gyrus	brain
28	chr3:135692600-135694200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr3:135692600-135694200	Enhancers	Fetal Heart	heart
30	chr3:135692800-135694000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:135692800-135694000	Enhancers	Aorta	Aorta
32	chr3:135692800-135694000	Enhancers	Esophagus	oesophagus
33	chr3:135692800-135694200	Enhancers	Right Atrium	heart
34	chr3:135692800-135694200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr3:135693000-135700600	Weak transcription	Pancreas	Pancrea
36	chr3:135693000-135701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:135693200-135694000	Enhancers	Fetal Lung	lung
38	chr3:135693400-135694200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:135693400-135694200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:135693400-135694200	Enhancers	Left Ventricle	heart
41	chr3:135693400-135694200	Enhancers	Right Ventricle	heart
42	chr3:135693400-135699800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:135693400-135699800	Weak transcription	NHLF	lung
44	chr3:135693400-135700600	Weak transcription	NH-A	brain
45	chr3:135693400-135701400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:135693600-135694400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:135693600-135694800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:135693600-135701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:135693600-135704000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:135693800-135694200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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