Variant report

Variant	rs7340303
Chromosome Location	chr2:39327847-39327848
allele	A/C
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	JUND	chr2:39327581-39327951	HepG2	liver:	n/a	chr2:39327784-39327795
2	JUND	chr2:39327433-39327853	K562	blood:	n/a	chr2:39327784-39327795
3	FOSL2	chr2:39327288-39328042	SK-N-SH	brain:	n/a	n/a
4	FOS	chr2:39327281-39327934	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:39327321-39327975	HUVEC	blood vessel:	n/a	n/a
6	FOS	chr2:39327182-39327962	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:39327242-39327932	MCF10A-Er-Src	breast:	n/a	n/a
8	JUN	chr2:39327360-39327942	HUVEC	blood vessel:	n/a	n/a
9	JUN	chr2:39327551-39327856	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39327483..39329510-chr2:39346870..39348991,3	MCF-7	breast:

Variant related genes	Relation type
HSPE1P13	TF binding region
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10166557	1.00[EUR][1000 genomes]
rs10173380	1.00[EUR][1000 genomes]
rs10173563	1.00[EUR][1000 genomes]
rs10184046	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184855	1.00[EUR][1000 genomes]
rs10186842	1.00[EUR][1000 genomes]
rs10188701	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10189440	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194533	1.00[EUR][1000 genomes]
rs10196863	1.00[EUR][1000 genomes]
rs10199955	1.00[EUR][1000 genomes]
rs10202876	1.00[EUR][1000 genomes]
rs10203565	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10207187	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10207984	1.00[EUR][1000 genomes]
rs10495882	1.00[EUR][1000 genomes]
rs12329307	1.00[EUR][1000 genomes]
rs13387231	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394446	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13395448	1.00[EUR][1000 genomes]
rs13407659	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13411756	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13416725	1.00[EUR][1000 genomes]
rs13424493	1.00[EUR][1000 genomes]
rs13425165	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13428418	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13432395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451278	1.00[EUR][1000 genomes]
rs17023148	1.00[EUR][1000 genomes]
rs17023149	1.00[EUR][1000 genomes]
rs17023214	1.00[EUR][1000 genomes]
rs17023241	1.00[EUR][1000 genomes]
rs17023292	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1901290	1.00[EUR][1000 genomes]
rs3099953	1.00[EUR][1000 genomes]
rs3112177	1.00[EUR][1000 genomes]
rs55890805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56269328	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56724744	1.00[EUR][1000 genomes]
rs57359008	1.00[EUR][1000 genomes]
rs59259697	1.00[EUR][1000 genomes]
rs60703378	1.00[EUR][1000 genomes]
rs61596046	1.00[EUR][1000 genomes]
rs6544200	1.00[EUR][1000 genomes]
rs6734212	1.00[EUR][1000 genomes]
rs6737680	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6751306	1.00[EUR][1000 genomes]
rs6753426	1.00[EUR][1000 genomes]
rs6754613	1.00[EUR][1000 genomes]
rs718312	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72906436	1.00[EUR][1000 genomes]
rs72906467	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72916836	1.00[EUR][1000 genomes]
rs72916860	1.00[EUR][1000 genomes]
rs72918710	1.00[EUR][1000 genomes]
rs72925431	1.00[EUR][1000 genomes]
rs72925433	1.00[EUR][1000 genomes]
rs72925439	1.00[EUR][1000 genomes]
rs73930506	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7559586	1.00[EUR][1000 genomes]
rs7564481	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565814	1.00[EUR][1000 genomes]
rs7571608	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571719	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7574214	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7582586	1.00[EUR][1000 genomes]
rs7589303	1.00[EUR][1000 genomes]
rs7599990	1.00[EUR][1000 genomes]
rs9646968	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv1008198	chr2:39271472-39364035	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised 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	34 gene(s)	inside rSNPs	diseases
13	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39280800-39334200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:39293800-39339400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:39294000-39345200	Weak transcription	Fetal Kidney	kidney
4	chr2:39294600-39339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:39296400-39339400	Weak transcription	Aorta	Aorta
6	chr2:39307600-39333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:39319000-39333800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:39319600-39328200	Weak transcription	Right Atrium	heart
9	chr2:39319600-39339600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:39319800-39333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:39319800-39343200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:39321000-39334200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:39321000-39334200	Weak transcription	Liver	Liver
14	chr2:39321000-39338600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:39321000-39344600	Weak transcription	Gastric	stomach
16	chr2:39321200-39331000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:39321200-39333800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:39321800-39332400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:39322400-39345200	Weak transcription	Osteobl	bone
20	chr2:39322600-39332400	Weak transcription	Fetal Intestine Small	intestine
21	chr2:39322600-39344400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:39322800-39328000	Weak transcription	Primary B cells from cord blood	blood
23	chr2:39322800-39329400	Weak transcription	Spleen	Spleen
24	chr2:39322800-39333800	Weak transcription	HSMM	muscle
25	chr2:39322800-39334200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:39322800-39334200	Weak transcription	NHLF	lung
27	chr2:39322800-39334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:39322800-39334400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:39322800-39334400	Weak transcription	K562	blood
30	chr2:39322800-39339200	Weak transcription	Fetal Thymus	thymus
31	chr2:39322800-39345200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:39323000-39331400	Weak transcription	HepG2	liver
33	chr2:39323000-39334000	Weak transcription	Fetal Lung	lung
34	chr2:39323000-39334400	Weak transcription	Fetal Stomach	stomach
35	chr2:39323000-39339000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:39323000-39339400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:39323000-39344800	Weak transcription	Primary T cells from cord blood	blood
38	chr2:39323200-39339400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:39323200-39339400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:39323400-39331800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:39323400-39334600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:39323400-39339200	Weak transcription	Dnd41	blood
43	chr2:39323600-39337600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:39324600-39328200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:39324600-39328200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:39325000-39328000	Weak transcription	Ovary	ovary
47	chr2:39325000-39328200	Weak transcription	Pancreas	Pancrea
48	chr2:39325000-39333800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:39325000-39333800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:39325000-39333800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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