Variant report

Variant	rs7743944
Chromosome Location	chr6:143834550-143834551
allele	A/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	UBTF	chr6:143834491-143834776	K562	blood:	n/a	n/a
2	RAD21	chr6:143834525-143834880	GM12878	blood:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
3	CTBP2	chr6:143834505-143834865	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMC3	chr6:143834464-143834860	GM12878	blood:	n/a	chr6:143834686-143834700
5	CTCF	chr6:143834521-143834879	A549	lung:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834705-143834713 chr6:143834686-143834707
6	RCOR1	chr6:143834483-143834862	K562	blood:	n/a	n/a
7	CTCF	chr6:143834223-143835060	SK-N-SH	brain:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834455-143834463 chr6:143834705-143834713 chr6:143834686-143834707
8	RAD21	chr6:143834416-143834930	H1-hESC	embryonic stem cell:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
9	CTCF	chr6:143834464-143834839	H1-hESC	embryonic stem cell:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834705-143834713 chr6:143834686-143834707
10	CBX3	chr6:143834323-143834827	K562	blood:	n/a	n/a
11	RCOR1	chr6:143834506-143834881	K562	blood:	n/a	n/a
12	CTCF	chr6:143834540-143834690	GM12872	blood:	n/a	n/a
13	CTCF	chr6:143834476-143834898	K562	blood:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834705-143834713 chr6:143834686-143834707
14	BCLAF1	chr6:143834420-143834889	GM12878	blood:	n/a	chr6:143834695-143834703
15	ZNF143	chr6:143834509-143834861	K562	blood:	n/a	n/a
16	CHD2	chr6:143834550-143834839	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr6:143834540-143834690	HA-sp	spinal cord:	n/a	n/a
18	YY1	chr6:143834505-143834825	GM12878	blood:	n/a	n/a
19	RAD21	chr6:143834431-143834956	ECC-1	luminal epithelium:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
20	ZNF143	chr6:143834475-143834932	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr6:143834383-143834916	K562	blood:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834455-143834463 chr6:143834705-143834713 chr6:143834686-143834707
22	BHLHE40	chr6:143834518-143834725	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:143834532-143834667	MCF10A-Er-Src	breast:	n/a	n/a
24	IRF4	chr6:143834433-143834906	GM12878	blood:	n/a	n/a
25	YY1	chr6:143834506-143834858	GM12891	blood:	n/a	n/a
26	CTCF	chr6:143834469-143835061	A549	lung:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834705-143834713 chr6:143834686-143834707
27	CTCF	chr6:143834489-143834843	HepG2	liver:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834705-143834713 chr6:143834686-143834707
28	YY1	chr6:143834550-143834756	GM12892	blood:	n/a	n/a
29	RAD21	chr6:143834527-143834926	A549	lung:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
30	RAD21	chr6:143834521-143834829	GM12878	blood:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
31	RAD21	chr6:143834422-143834953	HCT-116	colon:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
32	RAD21	chr6:143834494-143834808	K562	blood:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
33	MAZ	chr6:143834531-143834806	HepG2	liver:	n/a	n/a
34	RAD21	chr6:143834449-143834880	HepG2	liver:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
35	CTCF	chr6:143834464-143834888	H1-hESC	embryonic stem cell:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834705-143834713 chr6:143834686-143834707
36	YY1	chr6:143834516-143834862	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr6:143834492-143834844	HepG2	liver:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
38	JUND	chr6:143834519-143834918	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMC3	chr6:143834519-143834860	HepG2	liver:	n/a	chr6:143834686-143834700
40	KAP1	chr6:143834446-143834878	U2OS	brain:	n/a	n/a
41	SIN3A	chr6:143834507-143834891	H1-hESC	embryonic stem cell:	n/a	chr6:143834687-143834698
42	CTCF	chr6:143834472-143834889	K562	blood:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834705-143834713 chr6:143834686-143834707
43	SMC3	chr6:143834518-143834852	K562	blood:	n/a	chr6:143834686-143834700
44	CTCF	chr6:143834527-143834817	HepG2	liver:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834705-143834713 chr6:143834686-143834707
45	RAD21	chr6:143834527-143834874	HepG2	liver:	n/a	chr6:143834685-143834704 chr6:143834690-143834702
46	CTCF	chr6:143834420-143834570	HA-sp	spinal cord:	n/a	chr6:143834455-143834463
47	CTCF	chr6:143834384-143834925	HCT-116	colon:	n/a	chr6:143834687-143834700 chr6:143834685-143834701 chr6:143834684-143834702 chr6:143834455-143834463 chr6:143834705-143834713 chr6:143834686-143834707
48	MAZ	chr6:143834523-143834850	K562	blood:	n/a	n/a
49	CTCF	chr6:143834540-143834690	AG04450	lung:	n/a	n/a
50	RAD21	chr6:143834478-143834988	ECC-1	luminal epithelium:	n/a	chr6:143834685-143834704 chr6:143834690-143834702

No.	Distal block	Cell Line	Cell type
1	chr6:143833776..143837281-chr6:143848797..143850662,3	MCF-7	breast:
2	chr6:143833643..143836159-chr6:143840227..143841871,2	MCF-7	breast:
3	chr6:143829496..143838775-chr6:143854591..143861568,17	MCF-7	breast:
4	chr6:143833086..143836035-chr6:144328243..144329863,2	MCF-7	breast:
5	chr6:143833885..143836772-chr6:144163950..144165964,2	MCF-7	breast:
6	chr6:143769666..143773987-chr6:143831101..143834872,5	MCF-7	breast:
7	chr6:143770206..143773921-chr6:143828795..143834716,12	K562	blood:
8	chr6:143834115..143837109-chr6:143945007..143947118,2	K562	blood:
9	chr22:17847644..17848168-chr6:143833969..143834861,2	HCT-116	colon:
10	chr6:143770206..143776731-chr6:143830754..143834661,9	K562	blood:

Variant related genes	Relation type
FUCA2	TF binding region
ENSG00000112419	Chromatin interaction
ENSG00000118495	Chromatin interaction
ENSG00000034693	Chromatin interaction
ENSG00000189007	Chromatin interaction
ENSG00000223203	Chromatin interaction
ENSG00000135521	Chromatin interaction

rs_ID	r²[population]
rs10452657	0.82[AFR][1000 genomes]
rs10484801	0.88[AFR][1000 genomes]
rs17072714	1.00[MEX][hapmap]
rs17072720	0.82[AFR][1000 genomes]
rs17072725	0.80[ASW][hapmap];0.84[LWK][hapmap];0.87[MKK][hapmap]
rs57543960	0.88[AFR][1000 genomes]
rs57854102	0.86[AFR][1000 genomes]
rs61175683	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9496648	0.80[ASW][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap]

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143833200-143835800	Weak transcription	Gastric	stomach
2	chr6:143833200-143836000	Weak transcription	Ovary	ovary
3	chr6:143833200-143836000	Weak transcription	Small Intestine	intestine
4	chr6:143833200-143836200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:143833200-143836200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:143833200-143836200	Weak transcription	Brain Germinal Matrix	brain
7	chr6:143833200-143838200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:143833200-143849600	Weak transcription	Primary T cells from cord blood	blood
9	chr6:143833400-143834600	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:143833400-143834600	Enhancers	GM12878-XiMat	blood
11	chr6:143833400-143834600	Enhancers	HepG2	liver
12	chr6:143833400-143835000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:143833400-143835000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:143833400-143835000	Enhancers	Fetal Intestine Large	intestine
15	chr6:143833400-143835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:143833400-143835800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:143833400-143835800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:143833400-143835800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:143833400-143835800	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:143833400-143835800	Weak transcription	Fetal Lung	lung
21	chr6:143833400-143835800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:143833400-143836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:143833400-143836000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:143833400-143836000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:143833400-143836000	Weak transcription	Adipose Nuclei	Adipose
26	chr6:143833400-143836000	Weak transcription	Fetal Brain Female	brain
27	chr6:143833400-143836000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:143833400-143836000	Weak transcription	Fetal Stomach	stomach
29	chr6:143833400-143836000	Weak transcription	Pancreas	Pancrea
30	chr6:143833400-143836000	Weak transcription	Psoas Muscle	Psoas
31	chr6:143833400-143836000	Weak transcription	Right Ventricle	heart
32	chr6:143833400-143836000	Weak transcription	NHDF-Ad	bronchial
33	chr6:143833400-143836000	Weak transcription	NHLF	lung
34	chr6:143833400-143836200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:143833400-143836200	Weak transcription	Brain Anterior Caudate	brain
36	chr6:143833400-143836200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:143833400-143836200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:143833400-143836200	Weak transcription	Right Atrium	heart
39	chr6:143833400-143836200	Weak transcription	Spleen	Spleen
40	chr6:143833400-143836200	Weak transcription	Osteobl	bone
41	chr6:143833400-143836600	Weak transcription	Brain Substantia Nigra	brain
42	chr6:143833400-143837000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:143833400-143837200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:143833400-143837400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:143833400-143837400	Enhancers	Fetal Heart	heart
46	chr6:143833400-143837800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:143833400-143837800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr6:143833400-143838400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:143833400-143838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:143833400-143849400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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