Variant report

Variant	rs10991805
Chromosome Location	chr9:93941697-93941698
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	CTCF	chr9:93941660-93941810	AG04449	skin:	n/a	n/a
2	CTCF	chr9:93941640-93941790	A549	lung:	n/a	n/a
3	CTCF	chr9:93941600-93941750	HCT-116	colon:	n/a	n/a
4	CTCF	chr9:93941640-93941790	GM12864	blood:	n/a	n/a
5	CTCF	chr9:93941656-93941823	GM12891	blood:	n/a	n/a
6	CTCF	chr9:93941662-93941829	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:93941660-93941810	GM06990	blood:	n/a	n/a
8	CTCF	chr9:93941600-93941750	AG09309	skin:	n/a	n/a
9	CTCF	chr9:93941620-93941770	GM12874	blood:	n/a	n/a
10	CTCF	chr9:93941660-93941810	HepG2	liver:	n/a	n/a
11	CTCF	chr9:93941640-93941790	AG04449	skin:	n/a	n/a
12	CTCF	chr9:93941640-93941790	GM12865	blood:	n/a	n/a
13	CTCF	chr9:93941620-93941770	GM12878	blood:	n/a	n/a
14	CTCF	chr9:93941690-93941800	K562	blood:	n/a	n/a
15	CTCF	chr9:93941675-93941836	MCF-7	breast:	n/a	n/a
16	RAD21	chr9:93941177-93941857	H1-hESC	embryonic stem cell:	n/a	chr9:93941373-93941385 chr9:93941294-93941306 chr9:93941375-93941385 chr9:93941371-93941390
17	CTCF	chr9:93941680-93941857	MCF-7	breast:	n/a	n/a
18	CTCF	chr9:93941640-93941790	HMEC	breast:	n/a	n/a
19	CTCF	chr9:93941660-93941810	WERI-Rb-1	eye:	n/a	n/a
20	RAD21	chr9:93941631-93941869	H1-hESC	embryonic stem cell:	n/a	chr9:93941857-93941866
21	CTCF	chr9:93941660-93941810	HMF	breast:	n/a	n/a
22	CTCF	chr9:93941640-93941790	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr9:93941660-93941810	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr9:93941664-93941822	GM19238	blood:	n/a	n/a
25	RCOR1	chr9:93941428-93943042	IMR90	lung:	n/a	n/a
26	CTCF	chr9:93941680-93941830	HEK293	kidney:	n/a	n/a
27	CTCF	chr9:93941660-93941810	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr9:93941674-93941830	GM19239	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93939078..93941817-chr9:93947414..93952988,4	K562	blood:
2	chr9:93938945..93942205-chr9:93953498..93957392,4	K562	blood:

Variant related genes	Relation type
ENSG00000229694	TF binding region

rs_ID	r²[population]
rs10991804	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10991806	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991808	0.81[ASN][1000 genomes]
rs10991809	0.81[ASN][1000 genomes]
rs10991814	0.83[ASN][1000 genomes]
rs10991817	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10991818	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10991822	0.92[EUR][1000 genomes]
rs10991830	0.92[EUR][1000 genomes]
rs12236197	0.92[EUR][1000 genomes]
rs12236200	0.92[EUR][1000 genomes]
rs12236228	0.92[EUR][1000 genomes]
rs16907283	0.92[EUR][1000 genomes]
rs16907285	0.84[EUR][1000 genomes]
rs56673856	0.92[EUR][1000 genomes]
rs56703453	0.92[EUR][1000 genomes]
rs56878940	0.92[EUR][1000 genomes]
rs56924073	0.92[EUR][1000 genomes]
rs57231133	0.92[EUR][1000 genomes]
rs57252569	0.92[EUR][1000 genomes]
rs57891613	0.92[EUR][1000 genomes]
rs58116121	0.92[EUR][1000 genomes]
rs58154704	0.92[EUR][1000 genomes]
rs58170057	0.92[EUR][1000 genomes]
rs59049485	0.92[EUR][1000 genomes]
rs59101284	0.92[EUR][1000 genomes]
rs59271728	0.92[EUR][1000 genomes]
rs59300141	0.92[EUR][1000 genomes]
rs59555429	0.92[EUR][1000 genomes]
rs59752488	0.92[EUR][1000 genomes]
rs59800170	0.92[EUR][1000 genomes]
rs59849416	0.92[EUR][1000 genomes]
rs60448531	0.92[EUR][1000 genomes]
rs60709727	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60833404	0.92[EUR][1000 genomes]
rs60908817	0.92[EUR][1000 genomes]
rs61330200	0.85[EUR][1000 genomes]
rs61566702	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7031841	0.92[EUR][1000 genomes]
rs7042607	0.92[EUR][1000 genomes]
rs7043392	0.92[EUR][1000 genomes]
rs7045388	0.92[EUR][1000 genomes]
rs73497200	0.92[EUR][1000 genomes]
rs73503277	0.92[EUR][1000 genomes]
rs73503296	0.92[EUR][1000 genomes]
rs73505203	0.92[EUR][1000 genomes]
rs73505205	0.92[EUR][1000 genomes]
rs73505206	0.92[EUR][1000 genomes]
rs7849844	0.85[EUR][1000 genomes]
rs7863280	0.92[EUR][1000 genomes]
rs7866310	0.92[EUR][1000 genomes]
rs7870604	0.92[EUR][1000 genomes]
rs7871207	0.92[EUR][1000 genomes]

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93927600-93942200	Weak transcription	Right Ventricle	heart
2	chr9:93932200-93944000	Weak transcription	K562	blood
3	chr9:93937400-93942400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:93939400-93942400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:93939400-93942600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:93939400-93942600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:93939400-93942600	Enhancers	Esophagus	oesophagus
8	chr9:93939400-93942800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:93939400-93943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:93939800-93942200	Enhancers	HSMM	muscle
11	chr9:93939800-93943200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr9:93940000-93942800	Enhancers	NH-A	brain
13	chr9:93940000-93944600	Weak transcription	HepG2	liver
14	chr9:93940200-93942800	Enhancers	NHDF-Ad	bronchial
15	chr9:93940400-93942000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:93940400-93942800	Enhancers	HMEC	breast
17	chr9:93940400-93949000	Weak transcription	Spleen	Spleen
18	chr9:93940600-93942000	Weak transcription	Osteobl	bone
19	chr9:93940800-93942000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:93940800-93942600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:93940800-93946000	Weak transcription	Stomach Mucosa	stomach
22	chr9:93940800-93954000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:93941000-93942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:93941000-93944400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:93941000-93944800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr9:93941000-93953400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:93941000-93957400	Weak transcription	Gastric	stomach
28	chr9:93941200-93942200	Bivalent Enhancer	NHEK	skin
29	chr9:93941400-93941800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:93941400-93942000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:93941400-93942400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:93941400-93942800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr9:93941400-93942800	Enhancers	NHLF	lung

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