Variant report

Variant	rs9873256
Chromosome Location	chr3:119357356-119357357
allele	A/G
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	chr3:119356412-119358188	GM12892	blood:	n/a	n/a
2	POLR2A	chr3:119356584-119358176	GM12878	blood:	n/a	n/a
3	BATF	chr3:119356745-119357371	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:119356456-119358195	GM12892	blood:	n/a	n/a
5	ZNF384	chr3:119356591-119358059	K562	blood:	n/a	n/a
6	EP300	chr3:119356972-119357376	GM12878	blood:	n/a	n/a
7	IKZF1	chr3:119356654-119358681	GM12878	blood:	n/a	n/a
8	NFATC1	chr3:119356456-119358781	GM12878	blood:	n/a	n/a
9	ATF2	chr3:119356350-119357387	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:119356896-119357360	GM12891	blood:	n/a	n/a
11	GATA3	chr3:119356390-119359464	SK-N-SH	brain:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
12	RXRA	chr3:119356553-119357410	SK-N-SH	brain:	n/a	chr3:119356621-119356635
13	RELA	chr3:119356866-119358720	GM12878	blood:	n/a	n/a
14	NFIC	chr3:119356328-119359285	GM12878	blood:	n/a	n/a
15	MXI1	chr3:119356989-119358204	GM12878	blood:	n/a	n/a
16	PAX5	chr3:119357276-119358116	GM12878	blood:	n/a	chr3:119358021-119358030
17	EBF1	chr3:119356776-119358177	GM12878	blood:	n/a	n/a
18	MAX	chr3:119356534-119357409	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr3:119356618-119358182	GM12891	blood:	n/a	n/a
20	FOSL2	chr3:119356488-119357404	SK-N-SH	brain:	n/a	n/a
21	YY1	chr3:119357279-119358147	GM12878	blood:	n/a	n/a
22	POLR2A	chr3:119356431-119357388	U87	brain:	n/a	n/a
23	EP300	chr3:119355708-119359660	SK-N-SH	brain:	n/a	chr3:119358021-119358035 chr3:119358549-119358558 chr3:119357930-119357938 chr3:119356957-119356971 chr3:119356958-119356972
24	STAT5A	chr3:119356586-119358828	GM12878	blood:	n/a	chr3:119358550-119358559 chr3:119358549-119358558
25	POLR2A	chr3:119357008-119357372	GM12891	blood:	n/a	n/a
26	HMGN3	chr3:119356995-119358001	K562	blood:	n/a	n/a
27	JUND	chr3:119356479-119357519	SK-N-SH	brain:	n/a	n/a
28	TEAD4	chr3:119356549-119357442	SK-N-SH	brain:	n/a	n/a
29	BHLHE40	chr3:119356827-119358449	GM12878	blood:	n/a	n/a
30	PBX3	chr3:119356521-119357362	SK-N-SH	brain:	n/a	n/a
31	EP300	chr3:119356631-119357381	SK-N-SH_RA	brain:	n/a	chr3:119356957-119356971 chr3:119356958-119356972
32	ZNF384	chr3:119356550-119358661	GM12878	blood:	n/a	n/a
33	TCF12	chr3:119356436-119358312	SK-N-SH	brain:	n/a	chr3:119357774-119357782
34	RELA	chr3:119356737-119358479	GM18951	blood:	n/a	n/a
35	POLR2A	chr3:119357164-119357459	GM12878	blood:	n/a	n/a
36	MEF2A	chr3:119356565-119357445	SK-N-SH	brain:	n/a	chr3:119356702-119356710
37	POLR2A	chr3:119357305-119357359	ProgFib	skin:	n/a	n/a
38	EBF1	chr3:119357042-119357425	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:119357223-119358101	GM19193	blood:	n/a	n/a
40	TCF12	chr3:119356402-119359447	SK-N-SH	brain:	n/a	chr3:119357774-119357782
41	RELA	chr3:119356797-119358637	GM18505	blood:	n/a	n/a
42	MEF2A	chr3:119356572-119357370	SK-N-SH	brain:	n/a	chr3:119356702-119356710
43	CREB1	chr3:119356463-119358897	GM12878	blood:	n/a	n/a
44	RELA	chr3:119356983-119358425	GM19099	blood:	n/a	n/a
45	CHD2	chr3:119356906-119358581	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:119356420-119358219	GM12892	blood:	n/a	n/a
47	POLR2A	chr3:119356423-119358169	GM12891	blood:	n/a	n/a
48	IRF4	chr3:119356731-119357406	GM12878	blood:	n/a	n/a
49	PBX3	chr3:119356570-119357405	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr3:119356403-119358211	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119356916..119358623-chr3:119366628..119369264,2	K562	blood:
2	chr3:119344313..119346275-chr3:119356031..119358042,2	K562	blood:
3	chr3:119180931..119183365-chr3:119356123..119357901,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242052	TF binding region
ENSG00000176142	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13062697	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13095802	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13323756	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293235	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2319013	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786295	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6792223	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794067	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71325390	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9835803	0.97[ASN][1000 genomes]
rs9837943	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865825	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1796433	chr3:119350324-119360506	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1804126	chr3:119351398-119360506	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv527724	chr3:119353844-119361415	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv963275	chr3:119355854-119358012	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119341400-119364600	Weak transcription	Liver	Liver
3	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:119352000-119357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
8	chr3:119352600-119367000	Weak transcription	Ovary	ovary
9	chr3:119353800-119359000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr3:119354000-119358000	Enhancers	Fetal Heart	heart
11	chr3:119354000-119358600	Enhancers	Left Ventricle	heart
12	chr3:119354000-119358800	Enhancers	Placenta	Placenta
13	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:119354400-119358400	Enhancers	Adipose Nuclei	Adipose
15	chr3:119354400-119358400	Enhancers	Right Atrium	heart
16	chr3:119354400-119358800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:119354600-119357800	Enhancers	Psoas Muscle	Psoas
18	chr3:119354600-119358400	Enhancers	HUVEC	blood vessel
19	chr3:119354800-119358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:119354800-119358400	Enhancers	HSMM	muscle
21	chr3:119354800-119358600	Enhancers	Small Intestine	intestine
22	chr3:119354800-119358600	Enhancers	HMEC	breast
23	chr3:119354800-119360400	Weak transcription	Lung	lung
24	chr3:119355000-119357600	Weak transcription	Esophagus	oesophagus
25	chr3:119355000-119357600	Weak transcription	Fetal Stomach	stomach
26	chr3:119355000-119358000	Enhancers	Spleen	Spleen
27	chr3:119355000-119358200	Enhancers	HSMMtube	muscle
28	chr3:119355000-119358200	Enhancers	NHLF	lung
29	chr3:119355000-119358400	Enhancers	K562	blood
30	chr3:119355200-119358200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr3:119355400-119358600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:119355400-119361000	Weak transcription	Pancreas	Pancrea
33	chr3:119355800-119357400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:119356000-119358600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:119356200-119358000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:119356200-119360200	Weak transcription	Primary T cells from cord blood	blood
37	chr3:119356200-119360800	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:119356400-119357400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:119356400-119358000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:119356400-119358000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:119356400-119358000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:119356400-119358000	Enhancers	Fetal Muscle Leg	muscle
44	chr3:119356400-119358200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:119356400-119358400	Enhancers	NHEK	skin
46	chr3:119356400-119358600	Enhancers	Primary B cells from peripheral blood	blood
47	chr3:119356400-119358600	Enhancers	Fetal Thymus	thymus
48	chr3:119356600-119357600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr3:119356600-119357600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:119356600-119357800	Enhancers	Fetal Muscle Trunk	muscle

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