Variant report

Variant	rs7547097
Chromosome Location	chr1:212108945-212108946
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	chr1:212108633-212109187	GM12891	blood:	n/a	n/a
2	CREB1	chr1:212108329-212109380	GM12878	blood:	n/a	n/a
3	PAX5	chr1:212108733-212109250	GM12878	blood:	n/a	n/a
4	FOXM1	chr1:212108473-212109368	GM12878	blood:	n/a	n/a
5	EBF1	chr1:212108704-212109193	GM12878	blood:	n/a	n/a
6	NFATC1	chr1:212108611-212109319	GM12878	blood:	n/a	n/a
7	PAX5	chr1:212108785-212109243	GM12878	blood:	n/a	n/a
8	EP300	chr1:212108674-212109246	GM12878	blood:	n/a	chr1:212108898-212108912
9	POU2F2	chr1:212108648-212109278	GM12878	blood:	n/a	chr1:212108976-212108989 chr1:212109051-212109063 chr1:212108979-212108988 chr1:212108980-212108987
10	BCL3	chr1:212108568-212109254	GM12878	blood:	n/a	chr1:212109204-212109213
11	POLR2A	chr1:212108674-212109286	GM12892	blood:	n/a	n/a
12	MAX	chr1:212108752-212109349	GM12878	blood:	n/a	n/a
13	EBF1	chr1:212107365-212109306	GM12878	blood:	n/a	chr1:212108338-212108351 chr1:212108340-212108349 chr1:212108340-212108350 chr1:212108340-212108349
14	MEF2A	chr1:212108525-212109298	GM12878	blood:	n/a	chr1:212108840-212108855 chr1:212108835-212108856 chr1:212108835-212108856 chr1:212108841-212108852 chr1:212108840-212108854 chr1:212109153-212109167 chr1:212108839-212108854 chr1:212108842-212108853 chr1:212108842-212108851 chr1:212108839-212108855 chr1:212108835-212108856
15	POLR2A	chr1:212108557-212109367	GM12878	blood:	n/a	n/a
16	STAT5A	chr1:212108640-212109189	GM12878	blood:	n/a	n/a
17	RELA	chr1:212108699-212109350	GM10847	blood:	n/a	n/a
18	PML	chr1:212108600-212109205	GM12878	blood:	n/a	n/a
19	BCLAF1	chr1:212108639-212109306	GM12878	blood:	n/a	chr1:212109204-212109213
20	JUND	chr1:212107719-212109385	GM12878	blood:	n/a	chr1:212108904-212108916 chr1:212108209-212108218
21	RELA	chr1:212108700-212109341	GM12891	blood:	n/a	n/a
22	ETS1	chr1:212108649-212109147	GM12878	blood:	n/a	chr1:212109031-212109046
23	MEF2C	chr1:212108526-212109396	GM12878	blood:	n/a	chr1:212108840-212108855 chr1:212108835-212108856 chr1:212108835-212108856 chr1:212108841-212108852 chr1:212108840-212108854 chr1:212109153-212109167 chr1:212108839-212108854 chr1:212108842-212108853 chr1:212108842-212108851 chr1:212108839-212108855 chr1:212108835-212108856
24	YY1	chr1:212108715-212109153	GM12878	blood:	n/a	n/a
25	PAX5	chr1:212108597-212109421	GM12878	blood:	n/a	n/a
26	SPI1	chr1:212108769-212109187	GM12891	blood:	n/a	n/a
27	ATF2	chr1:212108530-212109344	GM12878	blood:	n/a	n/a
28	RFX5	chr1:212108734-212109258	GM12878	blood:	n/a	n/a
29	MEF2A	chr1:212108494-212109459	GM12878	blood:	n/a	chr1:212108840-212108855 chr1:212108835-212108856 chr1:212108835-212108856 chr1:212108841-212108852 chr1:212108840-212108854 chr1:212109153-212109167 chr1:212108839-212108854 chr1:212108842-212108853 chr1:212108842-212108851 chr1:212108839-212108855 chr1:212108835-212108856
30	STAT1	chr1:212108791-212109306	GM12878	blood:	n/a	n/a
31	STAT5A	chr1:212108558-212109379	GM12878	blood:	n/a	n/a
32	BCL3	chr1:212108728-212109130	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:212108477-212109374	GM12892	blood:	n/a	n/a
34	NFATC1	chr1:212108553-212109426	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:212107782-212109291	GM12878	blood:	n/a	n/a
36	TCF12	chr1:212108740-212109091	GM12878	blood:	n/a	n/a
37	IRF4	chr1:212108609-212109333	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:212108944-212109149	GM12891	blood:	n/a	n/a
39	CUX1	chr1:212108683-212109240	GM12878	blood:	n/a	chr1:212109100-212109114
40	RUNX3	chr1:212108485-212109457	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:212107972-212109252	GM12878	blood:	n/a	n/a
42	BHLHE40	chr1:212108524-212109385	GM12878	blood:	n/a	n/a
43	EGR1	chr1:212108826-212109012	GM12878	blood:	n/a	n/a
44	NFIC	chr1:212108274-212109450	GM12878	blood:	n/a	n/a
45	YY1	chr1:212108726-212109142	K562	blood:	n/a	n/a
46	YY1	chr1:212108712-212109200	GM12892	blood:	n/a	n/a
47	POLR2A	chr1:212108833-212109158	GM12878	blood:	n/a	n/a
48	POU2F2	chr1:212108629-212109304	GM12878	blood:	n/a	chr1:212108976-212108989 chr1:212109051-212109063 chr1:212108979-212108988 chr1:212108980-212108987
49	POU2F2	chr1:212108810-212109146	GM12878	blood:	n/a	chr1:212108976-212108989 chr1:212109051-212109063 chr1:212108979-212108988 chr1:212108980-212108987
50	CREB1	chr1:212108622-212109352	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233626	TF binding region

rs_ID	r²[population]
rs11119813	0.86[JPT][hapmap]
rs11119836	0.85[CEU][hapmap]
rs11119843	0.85[CEU][hapmap]
rs1157168	0.86[JPT][hapmap]
rs12070369	0.85[CEU][hapmap]
rs12076757	0.85[CEU][hapmap]
rs12076991	0.86[JPT][hapmap]
rs12084756	0.86[JPT][hapmap]
rs12095938	0.86[JPT][hapmap]
rs1387815	0.85[CEU][hapmap]
rs17699790	0.85[CEU][hapmap]
rs2788123	0.88[JPT][hapmap]
rs2970578	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3738197	0.86[JPT][hapmap]
rs3862952	0.86[JPT][hapmap]
rs4951560	0.86[CEU][hapmap]
rs4951561	0.85[CEU][hapmap]
rs4951567	0.86[CEU][hapmap]
rs61828532	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6540709	0.86[JPT][hapmap]
rs6540716	1.00[YRI][hapmap]
rs6664082	0.86[JPT][hapmap]
rs6666948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6684049	0.86[JPT][hapmap]
rs6704043	1.00[JPT][hapmap]
rs7518896	0.86[JPT][hapmap]
rs7524009	0.86[JPT][hapmap]
rs7534064	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7534335	0.86[JPT][hapmap]
rs7540968	0.85[CEU][hapmap]

SNP	Gene	Cis/trans	Tissue	Source
rs7547097	INTS7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212084800-212113000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212100600-212109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212102000-212109000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:212102400-212113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:212102600-212115200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:212102600-212120400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:212102800-212111400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:212102800-212114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:212102800-212115000	Weak transcription	Fetal Thymus	thymus
10	chr1:212102800-212115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:212103000-212132600	Weak transcription	Gastric	stomach
12	chr1:212103200-212115000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:212103200-212115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:212103200-212115200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:212103200-212115200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:212103400-212111600	Weak transcription	Liver	Liver
17	chr1:212103400-212113200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:212103400-212113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:212103600-212111800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:212103600-212111800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:212103600-212115000	Weak transcription	NHEK	skin
22	chr1:212103600-212115400	Weak transcription	HMEC	breast
23	chr1:212103600-212132200	Weak transcription	Esophagus	oesophagus
24	chr1:212103800-212132200	Weak transcription	NHLF	lung
25	chr1:212104000-212117600	Weak transcription	HepG2	liver
26	chr1:212104200-212115000	Weak transcription	Lung	lung
27	chr1:212104800-212109600	Weak transcription	Fetal Intestine Small	intestine
28	chr1:212104800-212114800	Weak transcription	Hela-S3	cervix
29	chr1:212104800-212124400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:212105400-212109000	Enhancers	Fetal Heart	heart
31	chr1:212105400-212109200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:212105400-212109200	Enhancers	Fetal Muscle Leg	muscle
33	chr1:212106200-212111800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:212106200-212148600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:212106400-212111800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:212106400-212111800	Weak transcription	Left Ventricle	heart
37	chr1:212106400-212115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:212106400-212132400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:212106400-212132600	Weak transcription	Right Ventricle	heart
40	chr1:212106400-212147800	Weak transcription	NH-A	brain
41	chr1:212106800-212111800	Weak transcription	Adipose Nuclei	Adipose
42	chr1:212106800-212112200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:212106800-212113400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:212107000-212110200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:212107000-212111800	Weak transcription	K562	blood
46	chr1:212107000-212115000	Weak transcription	Placenta	Placenta
47	chr1:212107000-212115200	Weak transcription	HSMM	muscle
48	chr1:212107000-212118000	Weak transcription	HSMMtube	muscle
49	chr1:212107000-212132800	Weak transcription	Pancreas	Pancrea
50	chr1:212107200-212116600	Weak transcription	HUVEC	blood vessel

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