Variant report

Variant	rs73256769
Chromosome Location	chr5:115908584-115908585
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	SIN3AK20	chr5:115907604-115909016	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr5:115907926-115910875	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:115907551-115910073	H1-neurons	neurons:	n/a	n/a
4	RAD21	chr5:115907512-115912646	SK-N-SH	brain:	n/a	chr5:115907841-115907850 chr5:115911934-115911953 chr5:115907716-115907735 chr5:115908547-115908561
5	ELF1	chr5:115908356-115910007	GM12878	blood:	n/a	chr5:115909136-115909148
6	TAF7	chr5:115907641-115910935	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:115907535-115911062	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr5:115908231-115909209	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:115908285-115908756	HepG2	liver:	n/a	n/a
10	MXI1	chr5:115906888-115912476	SK-N-SH	brain:	n/a	n/a
11	MAX	chr5:115907989-115909244	HepG2	liver:	n/a	chr5:115908644-115908654
12	TAF1	chr5:115908044-115909178	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr5:115908109-115908641	SK-N-SH	brain:	n/a	chr5:115908364-115908378 chr5:115908184-115908197
14	RCOR1	chr5:115908538-115908682	HepG2	liver:	n/a	n/a
15	REST	chr5:115907466-115911186	H1-neurons	neurons:	n/a	chr5:115908364-115908378 chr5:115909837-115909847 chr5:115908696-115908709 chr5:115909413-115909420 chr5:115909415-115909422 chr5:115910536-115910546 chr5:115908184-115908197 chr5:115908786-115908796 chr5:115910468-115910478 chr5:115909717-115909730
16	POLR2A	chr5:115908163-115908596	MCF-7	breast:	n/a	n/a
17	SMC3	chr5:115907633-115912597	SK-N-SH	brain:	n/a	chr5:115908994-115909004 chr5:115907717-115907731 chr5:115911939-115911949 chr5:115909229-115909236
18	POLR2A	chr5:115908580-115909600	H1-hESC	embryonic stem cell:	n/a	n/a
19	KAP1	chr5:115907836-115908989	HEK293	kidney:	n/a	n/a
20	MXI1	chr5:115907645-115908685	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr5:115908188-115911902	H1-hESC	embryonic stem cell:	n/a	chr5:115910287-115910297
22	TBP	chr5:115907722-115909508	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3A	chr5:115907561-115912449	H1-hESC	embryonic stem cell:	n/a	chr5:115910340-115910351 chr5:115908696-115908709 chr5:115909519-115909530
24	ZNF263	chr5:115907561-115910866	HEK293-T-REx	kidney:	n/a	chr5:115909036-115909045 chr5:115908206-115908215 chr5:115908615-115908624
25	JUND	chr5:115908405-115908649	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr5:115908183-115908850	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:115907756-115910230	H1-neurons	neurons:	n/a	n/a
28	MAZ	chr5:115908562-115908669	HepG2	liver:	n/a	chr5:115908644-115908654

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115901171..115904653-chr5:115905070..115909680,4	K562	blood:
2	chr5:115901171..115903788-chr5:115907458..115909680,2	K562	blood:

Variant related genes	Relation type
ENSG00000249167	TF binding region

rs_ID	r²[population]
rs10037569	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]
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]
rs73780329	1.00[EUR][1000 genomes]
rs73780382	1.00[EUR][1000 genomes]
rs7711834	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7718743	1.00[EUR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115897200-115909800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
2	chr5:115906000-115912400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:115906400-115912200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr5:115906400-115912400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:115906800-115912600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:115906800-115912800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:115907000-115909200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:115907000-115912200	Active TSS	Fetal Intestine Large	intestine
9	chr5:115907000-115912400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:115907200-115912200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:115907200-115912600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:115907200-115912600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:115907400-115909000	Active TSS	HSMMtube	muscle
14	chr5:115907400-115911400	Active TSS	Colon Smooth Muscle	Colon
15	chr5:115907400-115911400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr5:115907400-115912200	Active TSS	Fetal Intestine Small	intestine
17	chr5:115907400-115912400	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:115907400-115912600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:115907400-115912600	Active TSS	Brain Angular Gyrus	brain
20	chr5:115907600-115908600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr5:115907600-115908800	Bivalent Enhancer	A549	lung
22	chr5:115907600-115908800	Bivalent/Poised TSS	GM12878-XiMat	blood
23	chr5:115907600-115909600	Bivalent/Poised TSS	Small Intestine	intestine
24	chr5:115907600-115910200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr5:115907600-115910200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr5:115907600-115910600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
27	chr5:115907600-115912000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr5:115907600-115912400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:115907600-115912400	Active TSS	Ovary	ovary
30	chr5:115907600-115912600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:115907600-115912600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:115907600-115912600	Active TSS	Brain Anterior Caudate	brain
33	chr5:115907600-115912600	Active TSS	Brain Cingulate Gyrus	brain
34	chr5:115907600-115912600	Active TSS	Brain Substantia Nigra	brain
35	chr5:115907800-115908600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
36	chr5:115907800-115908600	Flanking Bivalent TSS/Enh	Liver	Liver
37	chr5:115907800-115908600	Active TSS	Gastric	stomach
38	chr5:115907800-115908800	Bivalent/Poised TSS	Fetal Thymus	thymus
39	chr5:115907800-115909000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:115907800-115909000	Active TSS	Lung	lung
41	chr5:115907800-115909200	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:115907800-115909600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr5:115907800-115909800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr5:115907800-115910000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr5:115907800-115910000	Flanking Active TSS	Right Ventricle	heart
46	chr5:115907800-115912600	Active TSS	Fetal Kidney	kidney
47	chr5:115908000-115908600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr5:115908000-115908800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr5:115908000-115908800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr5:115908000-115909000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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