Variant report

Variant	rs6981759
Chromosome Location	chr8:38832841-38832842
allele	A/C
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	chr8:38832828-38833210	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:38830683-38832847	GM12878	blood:	n/a	n/a
3	CTCF	chr8:38832760-38832910	GM12873	blood:	n/a	n/a
4	RAD21	chr8:38832811-38833205	HCT-116	colon:	n/a	n/a
5	POLR2A	chr8:38832784-38832939	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr8:38832814-38833202	MCF-7	breast:	n/a	n/a
7	HA-E2F1	chr8:38832035-38832842	MCF-7	breast:	n/a	chr8:38832261-38832275 chr8:38832258-38832267
8	MAX	chr8:38831644-38832845	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr8:38832793-38833151	HepG2	liver:	n/a	n/a
10	RAD21	chr8:38832740-38833219	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:38832800-38833194	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:38831399-38833570	Hela-S3	cervix:	n/a	n/a
13	E2F6	chr8:38831917-38832846	H1-hESC	embryonic stem cell:	n/a	chr8:38832261-38832275 chr8:38832258-38832267

No.	Distal block	Cell Line	Cell type
1	chr8:38706990..38708617-chr8:38832174..38834986,2	MCF-7	breast:
2	chr1:155362443..155363274-chr8:38832331..38832952,2	Hela-S3	cervix:
3	chr8:38832492..38834356-chr8:38851232..38853564,3	MCF-7	breast:
4	chr8:38832072..38833724-chr8:38840182..38841835,2	K562	blood:

Variant related genes	Relation type
ENSG00000253645	TF binding region
ENSG00000169490	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10089487	0.86[ASN][1000 genomes]
rs10105311	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106085	0.86[ASN][1000 genomes]
rs10113077	0.85[ASN][1000 genomes]
rs10958812	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13282047	0.85[ASN][1000 genomes]
rs28641150	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4128871	0.83[ASN][1000 genomes]
rs4301415	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4404880	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4733893	0.86[EUR][1000 genomes]
rs4733894	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4733897	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4733958	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4733959	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4733964	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6474515	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6474516	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985572	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6996274	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6998440	0.84[AFR][1000 genomes]
rs7000059	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007639	0.86[AFR][1000 genomes]
rs7010131	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7821237	0.85[ASN][1000 genomes]
rs7838874	0.85[ASN][1000 genomes]
rs9692838	0.80[EUR][1000 genomes]
rs9987126	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6981759	TM2D2	cis	Muscle Skeletal	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38817800-38835200	Weak transcription	HepG2	liver
2	chr8:38824000-38846400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:38824200-38834000	Weak transcription	A549	lung
4	chr8:38824200-38847800	Weak transcription	Brain Substantia Nigra	brain
5	chr8:38824200-38848400	Weak transcription	Brain Angular Gyrus	brain
6	chr8:38824200-38848800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:38825000-38833200	Strong transcription	Osteobl	bone
8	chr8:38825200-38833000	Strong transcription	Primary T cells from cord blood	blood
9	chr8:38827200-38833200	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr8:38827800-38847600	Weak transcription	Small Intestine	intestine
11	chr8:38828000-38837000	Weak transcription	HSMM	muscle
12	chr8:38828000-38847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:38828000-38848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:38828400-38848200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:38828800-38839400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:38828800-38848400	Weak transcription	HSMMtube	muscle
17	chr8:38829000-38838800	Weak transcription	Left Ventricle	heart
18	chr8:38829000-38847600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:38829000-38847600	Weak transcription	Hela-S3	cervix
20	chr8:38829000-38847800	Weak transcription	Aorta	Aorta
21	chr8:38829000-38847800	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:38829000-38848400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:38829400-38833800	Weak transcription	NHDF-Ad	bronchial
24	chr8:38830000-38847800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:38831000-38833000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:38831000-38833400	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr8:38831000-38833400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:38831200-38833000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:38831200-38833400	Genic enhancers	Spleen	Spleen
30	chr8:38831200-38833400	Strong transcription	NHLF	lung
31	chr8:38831400-38833000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr8:38831400-38833200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr8:38831400-38839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:38831600-38833000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr8:38831600-38833000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:38831600-38848200	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:38831800-38833000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr8:38831800-38833000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:38831800-38839800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:38831800-38847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:38831800-38848400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:38832000-38834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:38832000-38847800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:38832000-38848000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:38832000-38848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:38832000-38848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:38832200-38833200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:38832200-38834000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:38832200-38847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:38832200-38848400	Weak transcription	Ovary	ovary

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