Variant report

Variant	rs72976219
Chromosome Location	chr3:134370141-134370142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:134369090-134371560	U87	brain:	n/a	n/a
2	POLR2A	chr3:134369061-134371627	U87	brain:	n/a	n/a
3	YY1	chr3:134369653-134370143	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr3:134369568-134370369	H1-neurons	neurons:	n/a	n/a
5	CTCF	chr3:134370060-134370210	HRE	kidney:	n/a	n/a
6	MAFF	chr3:134369791-134370143	HepG2	liver:	n/a	chr3:134369949-134369967
7	YY1	chr3:134369629-134370186	SK-N-SH	brain:	n/a	n/a
8	MAFK	chr3:134369713-134370323	IMR90	lung:	n/a	n/a
9	MAFK	chr3:134369599-134370162	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr3:134369635-134370218	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr3:134369067-134371621	U87	brain:	n/a	n/a
12	REST	chr3:134369398-134370324	H1-neurons	neurons:	n/a	n/a
13	YY1	chr3:134369391-134370320	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr3:134370020-134370170	NHDF-neo	bronchial:	n/a	n/a
15	RAD21	chr3:134369677-134370188	SK-N-SH_RA	brain:	n/a	n/a
16	TBP	chr3:134370139-134370300	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAFK	chr3:134369781-134370145	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:134369745-134370166	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
KY	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10212595	0.88[ASN][1000 genomes]
rs1470555	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60863097	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72976212	0.85[ASN][1000 genomes]
rs72976228	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72976233	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv3343656	chr3:134368312-134371210	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134368200-134371200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr3:134368400-134371800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr3:134368600-134370200	Active TSS	Rectal Smooth Muscle	rectum
4	chr3:134368800-134370200	Active TSS	Brain Angular Gyrus	brain
5	chr3:134368800-134370200	Active TSS	Brain Hippocampus Middle	brain
6	chr3:134368800-134370200	Active TSS	Brain Substantia Nigra	brain
7	chr3:134369000-134370400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr3:134369000-134370600	Active TSS	Colon Smooth Muscle	Colon
9	chr3:134369000-134370600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr3:134369000-134370800	Active TSS	Brain Anterior Caudate	brain
11	chr3:134369200-134370200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:134369200-134370200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr3:134369200-134370200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:134369200-134370200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr3:134369200-134370200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:134369200-134370200	Active TSS	Brain Cingulate Gyrus	brain
17	chr3:134369200-134370200	Active TSS	Duodenum Mucosa	Duodenum
18	chr3:134369200-134370200	Active TSS	Fetal Intestine Small	intestine
19	chr3:134369200-134370200	Active TSS	Psoas Muscle	Psoas
20	chr3:134369200-134370400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:134369200-134370400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
22	chr3:134369200-134370400	Enhancers	Spleen	Spleen
23	chr3:134369200-134370600	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr3:134369200-134370800	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr3:134369200-134371000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:134369200-134371000	Enhancers	Lung	lung
30	chr3:134369400-134370200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:134369400-134370200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr3:134369400-134370200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:134369400-134370200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr3:134369400-134370200	Enhancers	Liver	Liver
35	chr3:134369400-134370200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:134369400-134370200	Active TSS	Esophagus	oesophagus
37	chr3:134369400-134370200	Active TSS	Fetal Heart	heart
38	chr3:134369400-134370200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr3:134369400-134370200	Active TSS	Gastric	stomach
40	chr3:134369400-134370200	Flanking Bivalent TSS/Enh	HMEC	breast
41	chr3:134369400-134370200	Active TSS	NHDF-Ad	bronchial
42	chr3:134369400-134370400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr3:134369400-134370400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:134369400-134370400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:134369400-134370400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:134369400-134370400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr3:134369400-134370400	Bivalent/Poised TSS	Fetal Thymus	thymus
48	chr3:134369400-134370400	Active TSS	Ovary	ovary
49	chr3:134369400-134370400	Bivalent/Poised TSS	Thymus	Thymus
50	chr3:134369400-134370400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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