Variant report

Variant	rs701992
Chromosome Location	chr3:120322399-120322400
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120321021..120323929-chr3:120363267..120365846,3	MCF-7	breast:
2	chr3:120321293..120323169-chr3:120342458..120344360,2	MCF-7	breast:
3	chr3:120322143..120324149-chr3:120374822..120377400,2	K562	blood:
4	chr3:120320397..120322628-chr6:26044181..26045926,2	MCF-7	breast:
5	chr3:120322103..120323838-chr3:120326789..120329238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234816	Chromatin interaction
ENSG00000113924	Chromatin interaction
ENSG00000196532	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs804987	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804994	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv508238	chr3:120248574-120329424	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv877377	chr3:120287683-120426750	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3464294	chr3:120303062-120420810	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv3464295	chr3:120303062-120420810	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
12	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120315800-120323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:120315800-120337200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:120316200-120323000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:120316200-120323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:120316200-120335200	Weak transcription	Esophagus	oesophagus
6	chr3:120316600-120322400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:120316600-120323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:120316800-120322400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:120316800-120322600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:120316800-120322600	Strong transcription	Fetal Thymus	thymus
11	chr3:120316800-120323400	Weak transcription	Colonic Mucosa	Colon
12	chr3:120317000-120322400	Strong transcription	Primary B cells from cord blood	blood
13	chr3:120317000-120322800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:120317200-120322400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:120317600-120322600	Strong transcription	Fetal Intestine Large	intestine
16	chr3:120317800-120323200	Weak transcription	Right Atrium	heart
17	chr3:120317800-120323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:120318000-120322400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr3:120318400-120322600	Strong transcription	Liver	Liver
20	chr3:120318400-120323400	Weak transcription	Fetal Brain Male	brain
21	chr3:120318600-120322600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:120318600-120322600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr3:120318600-120323000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr3:120318600-120323400	Weak transcription	Psoas Muscle	Psoas
25	chr3:120318800-120322600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr3:120318800-120322800	Strong transcription	HUVEC	blood vessel
27	chr3:120318800-120323200	Weak transcription	Brain Angular Gyrus	brain
28	chr3:120318800-120323400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:120318800-120325200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:120319000-120322400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr3:120319000-120322600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:120319000-120323000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:120319000-120323800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:120319200-120322400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:120319200-120322400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:120319200-120322600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr3:120319200-120322800	Strong transcription	Left Ventricle	heart
38	chr3:120319200-120323800	Strong transcription	Primary T cells from cord blood	blood
39	chr3:120319400-120323400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr3:120319400-120325000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:120319600-120322600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:120319600-120322600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr3:120319600-120322800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:120319600-120323000	Strong transcription	Adipose Nuclei	Adipose
45	chr3:120319600-120323000	Strong transcription	Fetal Muscle Leg	muscle
46	chr3:120319600-120323800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:120319800-120322600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr3:120319800-120322600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:120319800-120323000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:120319800-120323000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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