Variant report

Variant	rs6768830
Chromosome Location	chr3:50278069-50278070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50275833..50279919-chr3:50292841..50298987,5	MCF-7	breast:
2	chr3:50271160..50275227-chr3:50277363..50285143,16	MCF-7	breast:
3	chr3:50263479..50265032-chr3:50278011..50280852,2	K562	blood:

Variant related genes	Relation type
ENSG00000114353	Chromatin interaction
ENSG00000230454	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11914549	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11916258	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1894324	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35742391	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56287038	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57453427	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58415636	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61382127	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6446203	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7629917	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7636862	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7641224	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs886075	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9836046	0.95[EUR][1000 genomes]
rs9851719	1.00[EUR][1000 genomes]
rs9875873	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9878345	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
7	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
11	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv460529	chr3:50178011-50324672	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv460530	chr3:50178011-50324672	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
15	nsv590252	chr3:50178011-50324672	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
16	nsv1002916	chr3:50187646-50311666	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
17	nsv536564	chr3:50187646-50311666	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv1014256	chr3:50187646-50339163	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
19	nsv536565	chr3:50187646-50339163	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
20	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
21	nsv590253	chr3:50196418-50337422	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
22	esv2757870	chr3:50198478-50371377	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	esv2759148	chr3:50198478-50371377	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
24	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
25	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
26	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
27	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
28	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50275800-50279800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:50276000-50278400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:50276000-50278400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:50276000-50278800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:50276000-50280600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:50276000-50281200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr3:50276000-50283000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:50276000-50283400	Enhancers	Stomach Mucosa	stomach
9	chr3:50276000-50283400	Genic enhancers	Spleen	Spleen
10	chr3:50276200-50278400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:50276200-50278400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:50276200-50278600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:50276200-50278800	Weak transcription	Fetal Kidney	kidney
14	chr3:50276200-50279200	Weak transcription	K562	blood
15	chr3:50276200-50280600	Genic enhancers	Thymus	Thymus
16	chr3:50276200-50281200	Enhancers	Fetal Heart	heart
17	chr3:50276200-50283200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:50276200-50283200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:50276200-50283200	Genic enhancers	Fetal Stomach	stomach
20	chr3:50276200-50283200	Enhancers	Right Atrium	heart
21	chr3:50276200-50283400	Enhancers	Left Ventricle	heart
22	chr3:50276200-50286600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:50276200-50287000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:50276400-50278400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:50276400-50278600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:50276400-50279200	Genic enhancers	Placenta	Placenta
27	chr3:50276400-50279600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:50276400-50279600	Enhancers	Brain Substantia Nigra	brain
29	chr3:50276400-50279800	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr3:50276400-50279800	Enhancers	Fetal Brain Male	brain
31	chr3:50276400-50280400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:50276400-50283200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr3:50276400-50283200	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr3:50276400-50283200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr3:50276400-50283200	Genic enhancers	Fetal Thymus	thymus
36	chr3:50276400-50283400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:50276400-50283400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:50276400-50294400	Genic enhancers	Lung	lung
39	chr3:50276600-50278600	Enhancers	Colonic Mucosa	Colon
40	chr3:50276600-50279400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr3:50276600-50279600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:50276600-50279600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:50276600-50279800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr3:50276600-50280000	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr3:50276600-50280200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:50276600-50280200	Enhancers	Brain Angular Gyrus	brain
47	chr3:50276600-50280400	Enhancers	Gastric	stomach
48	chr3:50276600-50280400	Weak transcription	Ovary	ovary
49	chr3:50276600-50280600	Weak transcription	HSMMtube	muscle
50	chr3:50276600-50283200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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