Variant report

Variant	rs7711834
Chromosome Location	chr5:115912361-115912362
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	ZEB1	chr5:115911709-115912409	GM12878	blood:	n/a	n/a
2	CTBP2	chr5:115912171-115913036	H1-hESC	embryonic stem cell:	n/a	n/a
3	CREB1	chr5:115912213-115913459	GM12878	blood:	n/a	n/a
4	MAX	chr5:115912063-115912490	H1-hESC	embryonic stem cell:	n/a	n/a
5	STAT5A	chr5:115911642-115912499	GM12878	blood:	n/a	n/a
6	CTCF	chr5:115912260-115912410	GM12871	blood:	n/a	n/a
7	POLR2A	chr5:115911135-115912558	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr5:115911652-115912554	H1-hESC	embryonic stem cell:	n/a	chr5:115912374-115912383 chr5:115912021-115912031 chr5:115912093-115912100 chr5:115911997-115912006 chr5:115912093-115912100 chr5:115912093-115912100
9	EP300	chr5:115911664-115913404	GM12878	blood:	n/a	n/a
10	BRCA1	chr5:115911336-115912586	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr5:115911292-115913493	GM12878	blood:	n/a	n/a
12	RAD21	chr5:115907512-115912646	SK-N-SH	brain:	n/a	chr5:115907841-115907850 chr5:115911934-115911953 chr5:115907716-115907735 chr5:115908547-115908561
13	ELF1	chr5:115911776-115912451	GM12878	blood:	n/a	n/a
14	MAZ	chr5:115911249-115913425	GM12878	blood:	n/a	chr5:115912792-115912807 chr5:115912793-115912802 chr5:115912792-115912805 chr5:115912794-115912804 chr5:115911492-115911502 chr5:115912794-115912803 chr5:115912792-115912805 chr5:115912794-115912803 chr5:115912793-115912804 chr5:115912792-115912805 chr5:115912790-115912805 chr5:115912792-115912805 chr5:115912793-115912804 chr5:115912793-115912803
15	RAD21	chr5:115911613-115913432	GM12878	blood:	n/a	chr5:115911934-115911953
16	RAD21	chr5:115911609-115912439	H1-hESC	embryonic stem cell:	n/a	chr5:115911934-115911953
17	ZNF143	chr5:115911310-115912454	GM12878	blood:	n/a	chr5:115912021-115912031
18	EBF1	chr5:115910383-115913484	GM12878	blood:	n/a	chr5:115912875-115912886 chr5:115912878-115912887
19	RCOR1	chr5:115911602-115913462	GM12878	blood:	n/a	n/a
20	RAD21	chr5:115911297-115912555	H1-hESC	embryonic stem cell:	n/a	chr5:115911934-115911953
21	MTA3	chr5:115911889-115913511	GM12878	blood:	n/a	n/a
22	MXI1	chr5:115906888-115912476	SK-N-SH	brain:	n/a	n/a
23	RUNX3	chr5:115911602-115912463	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:115910283-115913382	GM12878	blood:	n/a	n/a
25	NRF1	chr5:115911362-115912371	SK-N-SH	brain:	n/a	chr5:115911997-115912006
26	POU2F2	chr5:115911719-115912464	GM12878	blood:	n/a	chr5:115912388-115912399 chr5:115912389-115912399
27	POLR2A	chr5:115911178-115912485	GM12878	blood:	n/a	n/a
28	CTCF	chr5:115912220-115912370	GM12873	blood:	n/a	n/a
29	CHD1	chr5:115910361-115913446	GM12878	blood:	n/a	n/a
30	FOXM1	chr5:115911651-115913474	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:115911744-115912440	GM12892	blood:	n/a	n/a
32	PML	chr5:115911514-115913522	GM12878	blood:	n/a	n/a
33	CTCF	chr5:115912300-115912450	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr5:115910310-115912531	GM12878	blood:	n/a	chr5:115911936-115911949 chr5:115911933-115911951
35	TBP	chr5:115911752-115913404	GM12878	blood:	n/a	n/a
36	SMC3	chr5:115907633-115912597	SK-N-SH	brain:	n/a	chr5:115908994-115909004 chr5:115907717-115907731 chr5:115911939-115911949 chr5:115909229-115909236
37	SMC3	chr5:115910369-115913364	GM12878	blood:	n/a	chr5:115911939-115911949
38	POLR2A	chr5:115911861-115912361	GM12878	blood:	n/a	n/a
39	BCLAF1	chr5:115911701-115912434	GM12878	blood:	n/a	n/a
40	CTCF	chr5:115911720-115912414	H1-hESC	embryonic stem cell:	n/a	chr5:115911936-115911949 chr5:115911933-115911951
41	WRNIP1	chr5:115911496-115912408	GM12878	blood:	n/a	n/a
42	ATF2	chr5:115912228-115913501	GM12878	blood:	n/a	chr5:115913109-115913120
43	MAX	chr5:115911264-115912449	H1-hESC	embryonic stem cell:	n/a	chr5:115911492-115911502
44	RAD21	chr5:115911365-115912427	H1-hESC	embryonic stem cell:	n/a	chr5:115911934-115911953
45	RAD21	chr5:115911749-115912489	GM12878	blood:	n/a	chr5:115911934-115911953
46	TAF1	chr5:115911257-115912442	H1-hESC	embryonic stem cell:	n/a	n/a
47	RELA	chr5:115911765-115913404	GM18951	blood:	n/a	n/a
48	SIN3A	chr5:115907561-115912449	H1-hESC	embryonic stem cell:	n/a	chr5:115910340-115910351 chr5:115908696-115908709 chr5:115909519-115909530
49	TBL1XR1	chr5:115911155-115913346	GM12878	blood:	n/a	n/a
50	CTCF	chr5:115911027-115912516	SK-N-SH	brain:	n/a	chr5:115911936-115911949 chr5:115911933-115911951

No.	Distal block	Cell Line	Cell type
1	chr5:115911320..115912473-chr5:116283341..116284236,4	MCF-7	breast:
2	chr5:115904366..115906105-chr5:115910810..115912566,2	K562	blood:
3	chr5:115911257..115912668-chr5:116283296..116284268,6	MCF-7	breast:
4	chr19:10764160..10766526-chr5:115912031..115913531,2	K562	blood:

Variant related genes	Relation type
SEMA6A	TF binding region
ENSG00000129351	Chromatin interaction
ENSG00000267100	Chromatin interaction

rs_ID	r²[population]
rs10037569	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10061468	1.00[EUR][1000 genomes]
rs10073342	1.00[EUR][1000 genomes]
rs12332586	1.00[EUR][1000 genomes]
rs13355107	1.00[EUR][1000 genomes]
rs13355323	1.00[EUR][1000 genomes]
rs13362514	1.00[EUR][1000 genomes]
rs17140058	1.00[EUR][1000 genomes]
rs17140180	1.00[EUR][1000 genomes]
rs28677890	1.00[EUR][1000 genomes]
rs3806916	0.81[AFR][1000 genomes]
rs4379240	1.00[EUR][1000 genomes]
rs58841498	1.00[EUR][1000 genomes]
rs60190258	1.00[EUR][1000 genomes]
rs640121	1.00[EUR][1000 genomes]
rs6864548	1.00[EUR][1000 genomes]
rs6897908	1.00[EUR][1000 genomes]
rs73256769	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780329	1.00[EUR][1000 genomes]
rs73780382	1.00[EUR][1000 genomes]
rs7718743	1.00[EUR][1000 genomes]

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115906000-115912400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:115906400-115912400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:115906800-115912600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:115906800-115912800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:115907000-115912400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:115907200-115912600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:115907200-115912600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:115907400-115912400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr5:115907400-115912600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:115907400-115912600	Active TSS	Brain Angular Gyrus	brain
11	chr5:115907600-115912400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:115907600-115912400	Active TSS	Ovary	ovary
13	chr5:115907600-115912600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:115907600-115912600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:115907600-115912600	Active TSS	Brain Anterior Caudate	brain
16	chr5:115907600-115912600	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:115907600-115912600	Active TSS	Brain Substantia Nigra	brain
18	chr5:115907800-115912600	Active TSS	Fetal Kidney	kidney
19	chr5:115908000-115912400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr5:115908000-115912400	Bivalent/Poised TSS	Thymus	Thymus
21	chr5:115908000-115912600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:115908200-115912400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:115908200-115912400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:115908200-115912800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:115908400-115912400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr5:115908400-115912400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:115908400-115912600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr5:115909000-115912400	Active TSS	Stomach Smooth Muscle	stomach
29	chr5:115909200-115912600	Active TSS	Right Atrium	heart
30	chr5:115909400-115912800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr5:115909600-115912400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr5:115909600-115912400	Active TSS	Rectal Smooth Muscle	rectum
33	chr5:115909600-115912400	Active TSS	Small Intestine	intestine
34	chr5:115909800-115912400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:115909800-115912400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:115909800-115912400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:115909800-115912600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:115909800-115912600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:115910000-115912400	Bivalent/Poised TSS	Psoas Muscle	Psoas
40	chr5:115910000-115912400	Active TSS	Right Ventricle	heart
41	chr5:115910200-115912400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:115910200-115912400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:115910600-115912400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr5:115910600-115912400	Active TSS	Fetal Heart	heart
45	chr5:115910600-115912400	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr5:115910600-115913000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
47	chr5:115910800-115912400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr5:115910800-115912400	Enhancers	Spleen	Spleen
49	chr5:115911000-115913000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr5:115911400-115912400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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