Variant report

Variant	rs73835204
Chromosome Location	chr3:50159620-50159621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50157801..50161419-chr3:50224013..50228566,6	MCF-7	breast:
2	chr3:50157579..50160318-chr3:50233509..50235124,2	MCF-7	breast:
3	chr3:50159116..50159819-chr3:50183361..50183915,2	MCF-7	breast:
4	chr3:50157890..50164898-chr3:50186493..50191745,15	MCF-7	breast:
5	chr3:50159011..50159688-chr3:50191786..50192464,2	MCF-7	breast:
6	chr3:50159501..50162170-chr3:50213209..50216428,3	K562	blood:
7	chr3:50159102..50161217-chr3:50161241..50163893,2	MCF-7	breast:
8	chr3:50158918..50160080-chr3:50361713..50362403,3	K562	blood:
9	chr3:50159119..50159942-chr3:50191580..50192142,2	MCF-7	breast:
10	chr3:50157879..50160528-chr3:50162974..50166130,4	K562	blood:
11	chr3:50159053..50159645-chr3:50263405..50264051,2	MCF-7	breast:
12	chr3:50158572..50161152-chr3:50232381..50234438,2	MCF-7	breast:
13	chr3:50159501..50161676-chr3:50213209..50215105,2	K562	blood:
14	chr3:50158688..50160030-chr3:50191274..50192403,3	MCF-7	breast:
15	chr3:50158714..50160101-chr3:50225873..50227682,16	MCF-7	breast:
16	chr3:50158552..50159685-chr3:50226139..50227732,7	K562	blood:
17	chr3:50158102..50159885-chr3:50296008..50298288,2	MCF-7	breast:
18	chr3:50157983..50159948-chr3:50231806..50233770,3	K562	blood:
19	chr3:50157123..50160509-chr3:50182287..50185771,3	MCF-7	breast:
20	chr3:50159456..50162319-chr3:50219571..50221770,3	K562	blood:
21	chr3:50157840..50167526-chr3:50182100..50196634,43	MCF-7	breast:
22	chr3:50131320..50133089-chr3:50157321..50159844,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114353	Chromatin interaction
ENSG00000001617	Chromatin interaction
ENSG00000230454	Chromatin interaction
ENSG00000235016	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12107488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050910	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34174971	1.00[AMR][1000 genomes]
rs6786780	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832787	1.00[AMR][1000 genomes]
rs73832793	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832794	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832795	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835205	0.98[AFR][1000 genomes]
rs73835206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
2	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
3	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	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
5	nsv818139	chr3:50144951-50174572	Weak transcription Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	esv3386929	chr3:50156348-50161346	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50128600-50160400	Strong transcription	Fetal Thymus	thymus
2	chr3:50129000-50160000	Strong transcription	Fetal Stomach	stomach
3	chr3:50129000-50160000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:50129000-50160800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:50129200-50160000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:50129200-50160200	Strong transcription	Fetal Brain Female	brain
7	chr3:50129600-50161600	Strong transcription	Thymus	Thymus
8	chr3:50130400-50159800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:50133800-50161200	Strong transcription	Right Ventricle	heart
10	chr3:50138000-50159800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:50139200-50159800	Strong transcription	HSMM	muscle
12	chr3:50143200-50163200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:50149800-50159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:50151000-50176400	Weak transcription	Right Atrium	heart
15	chr3:50153200-50160200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:50153600-50162200	Weak transcription	Fetal Heart	heart
17	chr3:50154400-50159800	Weak transcription	Psoas Muscle	Psoas
18	chr3:50156400-50161200	Weak transcription	A549	lung
19	chr3:50156400-50163800	Weak transcription	K562	blood
20	chr3:50156600-50162000	Weak transcription	NHDF-Ad	bronchial
21	chr3:50157000-50159800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:50157600-50161800	Weak transcription	Ovary	ovary
23	chr3:50157600-50162000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:50157800-50159800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:50157800-50161200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:50157800-50161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:50157800-50161400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:50157800-50161400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:50157800-50163200	Weak transcription	Brain Substantia Nigra	brain
30	chr3:50157800-50164400	Weak transcription	Small Intestine	intestine
31	chr3:50158000-50161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:50158000-50162000	Weak transcription	NH-A	brain
33	chr3:50158200-50160800	Weak transcription	Hela-S3	cervix
34	chr3:50158200-50162000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:50158400-50160200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:50158400-50161200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:50158400-50161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:50158400-50162000	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:50158400-50162000	Weak transcription	HUVEC	blood vessel
40	chr3:50158600-50160400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:50158600-50161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:50158600-50162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:50158600-50163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:50158600-50163200	Weak transcription	Left Ventricle	heart
45	chr3:50158600-50164200	Weak transcription	Aorta	Aorta
46	chr3:50158600-50164400	Weak transcription	HSMMtube	muscle
47	chr3:50158800-50159800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:50158800-50160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:50158800-50160800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:50158800-50160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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