Variant report

Variant	rs2671616
Chromosome Location	chr10:61469906-61469907
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	RAD21	chr10:61469434-61469917	H1-hESC	embryonic stem cell:	n/a	chr10:61469444-61469456
2	CTCF	chr10:61469054-61470533	SK-N-SH	brain:	n/a	chr10:61469389-61469402 chr10:61470323-61470336
3	POLR2A	chr10:61469282-61469906	MCF10A-Er-Src	breast:	n/a	n/a
4	TAF1	chr10:61469059-61469915	H1-neurons	neurons:	n/a	n/a
5	E2F6	chr10:61469083-61470050	K562	blood:	n/a	chr10:61469866-61469875 chr10:61469472-61469482 chr10:61469850-61469860
6	POLR2A	chr10:61468292-61470637	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr10:61469299-61470109	SK-N-SH	brain:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469479-61469489 chr10:61469877-61469886 chr10:61469877-61469887
8	MAX	chr10:61469330-61470151	ECC-1	luminal epithelium:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469479-61469489 chr10:61469877-61469886 chr10:61469877-61469887
9	TAF1	chr10:61468979-61470156	H1-hESC	embryonic stem cell:	n/a	n/a
10	HA-E2F1	chr10:61469312-61470391	MCF-7	breast:	n/a	chr10:61470117-61470124 chr10:61469866-61469875 chr10:61469472-61469482 chr10:61469850-61469860 chr10:61470117-61470124 chr10:61470117-61470124
11	MAX	chr10:61469221-61469917	HepG2	liver:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469479-61469489 chr10:61469877-61469886 chr10:61469877-61469887
12	POLR2A	chr10:61469020-61470031	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:61468486-61469955	H1-neurons	neurons:	n/a	n/a
14	RELA	chr10:61469079-61469908	GM12891	blood:	n/a	chr10:61469548-61469557 chr10:61469548-61469557
15	MAX	chr10:61468435-61469971	MCF-7	breast:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61468953-61468963 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469479-61469489 chr10:61469877-61469886 chr10:61469877-61469887
16	MAX	chr10:61468502-61470447	H1-hESC	embryonic stem cell:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61468953-61468963 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469479-61469489 chr10:61469877-61469886 chr10:61469877-61469887
17	POLR2A	chr10:61469401-61470236	Gliobla	brain:	n/a	n/a
18	USF1	chr10:61469731-61470035	H1-hESC	embryonic stem cell:	n/a	chr10:61469749-61469765
19	SIN3AK20	chr10:61469179-61469955	SK-N-SH	brain:	n/a	n/a
20	TBP	chr10:61468548-61470245	H1-hESC	embryonic stem cell:	n/a	n/a
21	KAP1	chr10:61469608-61470467	HEK293	kidney:	n/a	n/a
22	MAX	chr10:61469702-61470275	H1-hESC	embryonic stem cell:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469877-61469886 chr10:61469877-61469887
23	POLR2A	chr10:61469039-61469968	GM19193	blood:	n/a	n/a
24	MYC	chr10:61469243-61470009	H1-hESC	embryonic stem cell:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469479-61469489 chr10:61469877-61469886 chr10:61469877-61469887
25	MAX	chr10:61468404-61470127	K562	blood:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61468953-61468963 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469479-61469489 chr10:61469877-61469886 chr10:61469877-61469887
26	POLR2A	chr10:61469389-61470335	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr10:61469900-61470050	AG04449	skin:	n/a	n/a
28	JUND	chr10:61469314-61470163	H1-hESC	embryonic stem cell:	n/a	chr10:61469540-61469554
29	REST	chr10:61469100-61469918	H1-neurons	neurons:	n/a	chr10:61469184-61469197 chr10:61469430-61469443 chr10:61469172-61469185
30	POLR2A	chr10:61468599-61470241	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr10:61469708-61469953	K562	blood:	n/a	chr10:61469866-61469875 chr10:61469850-61469860
32	EGR1	chr10:61469287-61469981	HCT-116	colon:	n/a	chr10:61469861-61469874 chr10:61469865-61469875 chr10:61469648-61469662 chr10:61469452-61469462
33	TAF7	chr10:61468979-61470038	H1-hESC	embryonic stem cell:	n/a	n/a
34	E2F6	chr10:61469367-61470005	K562	blood:	n/a	chr10:61469866-61469875 chr10:61469472-61469482 chr10:61469850-61469860
35	POLR2A	chr10:61469291-61470059	MCF10A-Er-Src	breast:	n/a	n/a
36	TAF1	chr10:61468421-61470300	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr10:61468663-61469909	K562	blood:	n/a	n/a
38	REST	chr10:61468455-61470145	H1-neurons	neurons:	n/a	chr10:61469184-61469197 chr10:61469064-61469073 chr10:61468605-61468618 chr10:61469430-61469443 chr10:61468863-61468876 chr10:61469172-61469185
39	MAX	chr10:61469271-61470084	A549	lung:	n/a	chr10:61469877-61469887 chr10:61469876-61469887 chr10:61469878-61469885 chr10:61469876-61469887 chr10:61469875-61469888 chr10:61469877-61469886 chr10:61469479-61469489 chr10:61469877-61469886 chr10:61469877-61469887
40	EGR1	chr10:61469296-61469936	K562	blood:	n/a	chr10:61469861-61469874 chr10:61469865-61469875 chr10:61469648-61469662 chr10:61469452-61469462
41	ZBTB7A	chr10:61468403-61469998	ECC-1	luminal epithelium:	n/a	chr10:61469798-61469809
42	USF1	chr10:61469569-61470014	H1-hESC	embryonic stem cell:	n/a	chr10:61469749-61469765 chr10:61469707-61469723 chr10:61469710-61469726
43	E2F6	chr10:61469057-61470364	H1-hESC	embryonic stem cell:	n/a	chr10:61470117-61470124 chr10:61469866-61469875 chr10:61469472-61469482 chr10:61469850-61469860 chr10:61470117-61470124 chr10:61470117-61470124
44	ZNF143	chr10:61469497-61469955	H1-hESC	embryonic stem cell:	n/a	n/a
45	USF2	chr10:61469690-61469987	H1-hESC	embryonic stem cell:	n/a	chr10:61469749-61469765 chr10:61469707-61469723 chr10:61469710-61469726
46	TCF7L2	chr10:61469371-61470246	HCT-116	colon:	n/a	n/a
47	MXI1	chr10:61469632-61470108	H1-hESC	embryonic stem cell:	n/a	chr10:61469878-61469887
48	POLR2A	chr10:61469255-61469964	GM19099	blood:	n/a	n/a
49	POLR2A	chr10:61468457-61470330	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr10:61468520-61470195	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:61469858-61469908	NT2-D1	testis:	n/a
2	chr10:61469858-61469908	HAEpiC	amniotic membrane:	n/a
3	chr10:61469858-61469908	HepG2	liver:	n/a
4	chr10:61469858-61469908	U87	brain:	n/a
5	chr10:61469858-61469908	AG04449	skin:	fetal
6	chr10:61469858-61469908	GM12878	blood:	n/a
7	chr10:61469858-61469908	PrEC	prostate:	n/a
8	chr10:61469858-61469908	SK-N-SH_RA	brain:	n/a
9	chr10:61469858-61469908	AG09309	skin:	n/a
10	chr10:61469858-61469908	IMR90	lung:	fetal
11	chr10:61469858-61469908	HCF	heart:	n/a
12	chr10:61469858-61469908	ProgFib	skin:	n/a
13	chr10:61469858-61469908	PANC-1	pancreas:	n/a
14	chr10:61469858-61469908	AG09319	gingival:	n/a
15	chr10:61469858-61469908	GM12891	blood:	n/a
16	chr10:61469858-61469908	Hepatocyte	liver:	n/a
17	chr10:61469858-61469908	HMEC	breast:	n/a
18	chr10:61469858-61469908	HRPEpiC	eye:	n/a
19	chr10:61469858-61469908	NHDF-neo	bronchial:	n/a
20	chr10:61469858-61469908	GM19239	blood:	n/a
21	chr10:61469858-61469908	MCF10A-Er-Src	breast:	n/a
22	chr10:61469858-61469908	SK-N-SH	brain:	n/a
23	chr10:61469858-61469908	GM12892	blood:	n/a
24	chr10:61469858-61469908	HRCEpiC	kidney:	n/a
25	chr10:61469858-61469908	H1-hESC	embryonic stem cell:	embryo
26	chr10:61469858-61469908	SAEC	small airway:	n/a
27	chr10:61469858-61469908	A549	lung:	n/a
28	chr10:61469858-61469908	BJ	skin:	n/a
29	chr10:61469858-61469908	ovcar-3	ovarian:	n/a
30	chr10:61469858-61469908	SKMC	muscle:	n/a
31	chr10:61469858-61469908	ECC-1	luminal epithelium:	n/a
32	chr10:61469858-61469908	HCT-116	colon:	n/a
33	chr10:61469858-61469908	AG04450	lung:	fetal
34	chr10:61469858-61469908	MCF-7	breast:	n/a
35	chr10:61469858-61469908	HRE	kidney:	n/a
36	chr10:61469858-61469908	CMK	blood:	n/a
37	chr10:61469858-61469908	SK-N-MC	brain:	n/a
38	chr10:61469858-61469908	NHBE	bronchial:	n/a
39	chr10:61469858-61469908	HCPEpiC	choroid plexus:	n/a
40	chr10:61469858-61469908	K562	blood:	n/a
41	chr10:61469858-61469908	AG10803	skin:	n/a
42	chr10:61469858-61469908	HUVEC	blood vessel:	n/a
43	chr10:61469858-61469908	T-47D	breast:	n/a
44	chr10:61469858-61469908	Jurkat	blood:	n/a
45	chr10:61469858-61469908	AoSMC	blood vessel:	n/a
46	chr10:61469858-61469908	PFSK-1	brain:	n/a
47	chr10:61469858-61469908	HEEpiC	esophagus:	n/a
48	chr10:61469858-61469908	HCM	heart:	n/a
49	chr10:61469858-61469908	LNCaP	prostate:	n/a
50	chr10:61469858-61469908	HEK293	kidney:	embryo

Variant related genes	Relation type
SLC16A9	TF binding region
SLC16A9	CpG island

rs_ID	r²[population]
rs59320674	1.00[EUR][1000 genomes]

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61467600-61470000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr10:61467600-61470200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr10:61467600-61470400	Active TSS	Brain Anterior Caudate	brain
4	chr10:61467600-61470400	Active TSS	Rectal Smooth Muscle	rectum
5	chr10:61467800-61470000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:61467800-61470000	Active TSS	Ovary	ovary
7	chr10:61467800-61470200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:61468200-61470000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:61468200-61470200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:61468200-61470400	Active TSS	Fetal Brain Female	brain
11	chr10:61468400-61470000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:61468400-61470000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr10:61468400-61470000	Active TSS	Brain Substantia Nigra	brain
14	chr10:61468400-61470000	Active TSS	Fetal Lung	lung
15	chr10:61468400-61470000	Active TSS	Right Atrium	heart
16	chr10:61468400-61470000	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr10:61468400-61470000	Bivalent/Poised TSS	Thymus	Thymus
18	chr10:61468400-61470200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr10:61468400-61470200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr10:61468400-61470200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr10:61468400-61470200	Active TSS	Aorta	Aorta
22	chr10:61468400-61470200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:61468400-61470200	Active TSS	Left Ventricle	heart
24	chr10:61468400-61470200	Active TSS	HSMM	muscle
25	chr10:61468400-61470200	Active TSS	HSMMtube	muscle
26	chr10:61468400-61470400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr10:61468600-61470000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr10:61468600-61470000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:61468600-61470000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr10:61468600-61470000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:61468600-61470000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr10:61468600-61470000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr10:61468600-61470000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:61468600-61470000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr10:61468600-61470000	Flanking Active TSS	Colonic Mucosa	Colon
36	chr10:61468600-61470000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr10:61468600-61470000	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr10:61468600-61470000	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr10:61468600-61470000	Flanking Bivalent TSS/Enh	HMEC	breast
40	chr10:61468600-61470000	Bivalent/Poised TSS	Osteobl	bone
41	chr10:61468600-61470200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr10:61468600-61470200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:61468600-61470200	Active TSS	Fetal Kidney	kidney
44	chr10:61468600-61470200	Active TSS	Psoas Muscle	Psoas
45	chr10:61468600-61470200	Bivalent/Poised TSS	NH-A	brain
46	chr10:61468600-61470200	Bivalent/Poised TSS	NHLF	lung
47	chr10:61468800-61470000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr10:61468800-61470000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:61468800-61470000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr10:61468800-61470000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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