Variant report

Variant	rs10105311
Chromosome Location	chr8:38854041-38854042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:405)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF3	chr8:38854008-38854229	Hela-S3	cervix:	n/a	chr8:38854077-38854086
2	JUND	chr8:38854003-38854561	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:38853559-38855149	GM18505	blood:	n/a	n/a
4	POLR2A	chr8:38853780-38854177	PANC-1	pancreas:	n/a	n/a
5	E2F4	chr8:38853492-38854605	MCF10A-Er-Src	breast:	n/a	chr8:38854345-38854356
6	TAL1	chr8:38853790-38854117	K562	blood:	n/a	n/a
7	EP300	chr8:38853871-38854629	K562	blood:	n/a	n/a
8	MAX	chr8:38853563-38855250	K562	blood:	n/a	n/a
9	POLR2A	chr8:38853729-38854702	K562	blood:	n/a	n/a
10	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
11	GTF2F1	chr8:38853778-38854494	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:38853476-38854733	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr8:38853683-38854523	K562	blood:	n/a	n/a
14	TBL1XR1	chr8:38853755-38854087	K562	blood:	n/a	n/a
15	POLR2A	chr8:38853647-38854231	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr8:38853611-38854219	GM12891	blood:	n/a	n/a
17	SIN3AK20	chr8:38853542-38854089	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr8:38853610-38855274	K562	blood:	n/a	n/a
19	TAF1	chr8:38853825-38854166	SK-N-SH	brain:	n/a	n/a
20	MXI1	chr8:38853328-38856347	IMR90	lung:	n/a	n/a
21	CREB1	chr8:38853729-38854680	K562	blood:	n/a	n/a
22	MAX	chr8:38853724-38854774	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr8:38853998-38854050	MCF-7	breast:	n/a	n/a
24	TFAP2C	chr8:38853539-38855255	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr8:38853519-38854755	SK-N-SH	brain:	n/a	n/a
26	MAX	chr8:38853785-38854694	MCF-7	breast:	n/a	n/a
27	EBF1	chr8:38853735-38854144	GM12878	blood:	n/a	n/a
28	PAX5	chr8:38853760-38854314	GM12878	blood:	n/a	n/a
29	ZEB1	chr8:38853694-38854092	GM12878	blood:	n/a	n/a
30	ATF1	chr8:38853865-38854559	K562	blood:	n/a	n/a
31	POLR2A	chr8:38853769-38854181	PANC-1	pancreas:	n/a	n/a
32	TBP	chr8:38853579-38855140	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr8:38853924-38854707	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr8:38853656-38854821	NB4	blood:	n/a	n/a
35	CEBPD	chr8:38853760-38854212	HepG2	liver:	n/a	n/a
36	CHD2	chr8:38853657-38854634	Hela-S3	cervix:	n/a	chr8:38854280-38854290
37	TAF1	chr8:38853493-38854848	H1-neurons	neurons:	n/a	n/a
38	RFX5	chr8:38853842-38854213	H1-hESC	embryonic stem cell:	n/a	n/a
39	GTF2F1	chr8:38853712-38854749	H1-hESC	embryonic stem cell:	n/a	n/a
40	NRF1	chr8:38853884-38854531	GM12878	blood:	n/a	n/a
41	ARID3A	chr8:38853963-38854684	HepG2	liver:	n/a	n/a
42	GABPA	chr8:38853533-38854172	K562	blood:	n/a	n/a
43	TAF1	chr8:38853605-38854134	GM12891	blood:	n/a	n/a
44	RCOR1	chr8:38853744-38854607	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:38853250-38854843	HUVEC	blood vessel:	n/a	n/a
46	UBTF	chr8:38853662-38855265	K562	blood:	n/a	n/a
47	YY1	chr8:38853484-38854110	A549	lung:	n/a	chr8:38853763-38853775
48	POLR2A	chr8:38853349-38855315	H1-neurons	neurons:	n/a	n/a
49	EGR1	chr8:38853866-38854559	K562	blood:	n/a	n/a
50	POLR2A	chr8:38853567-38855253	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:38642891..38646001-chr8:38852513..38856801,5	K562	blood:
2	chr8:38853928..38855583-chr8:38872640..38874689,2	K562	blood:
3	chr8:38643651..38646089-chr8:38852696..38855577,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADAM9	TF binding region
TM2D2	TF binding region
ENSG00000147526	Chromatin interaction
ENSG00000168615	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10089487	0.93[ASN][1000 genomes]
rs10106085	0.93[ASN][1000 genomes]
rs10113077	0.92[ASN][1000 genomes]
rs13282047	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28641150	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4128871	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4301415	0.86[AMR][1000 genomes]
rs4733894	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733897	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4733959	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4733964	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6474515	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474516	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6981759	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985572	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7000059	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7010131	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7821237	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7832578	0.85[ASN][1000 genomes]
rs7838874	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9987126	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10105311	TM2D2	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38852600-38854800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:38852600-38856000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:38852600-38856600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:38852600-38856600	Active TSS	Esophagus	oesophagus
5	chr8:38852600-38856600	Active TSS	Lung	lung
6	chr8:38852600-38856800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:38852600-38857400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:38852600-38857400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:38852600-38857600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:38852600-38857600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:38852600-38857600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:38852800-38856600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:38852800-38856800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr8:38852800-38857600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:38852800-38857600	Active TSS	Right Ventricle	heart
16	chr8:38852800-38857600	Active TSS	NH-A	brain
17	chr8:38852800-38857800	Active TSS	A549	lung
18	chr8:38852800-38857800	Active TSS	NHLF	lung
19	chr8:38853000-38855400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:38853000-38855800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:38853000-38855800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:38853000-38856000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:38853000-38856000	Active TSS	Fetal Intestine Small	intestine
24	chr8:38853000-38856200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:38853000-38856400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:38853000-38856400	Active TSS	HSMMtube	muscle
27	chr8:38853000-38856600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:38853000-38856600	Active TSS	Ovary	ovary
29	chr8:38853000-38856800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:38853000-38856800	Active TSS	Fetal Muscle Trunk	muscle
31	chr8:38853000-38857000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr8:38853000-38857400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr8:38853000-38857600	Active TSS	HSMM	muscle
34	chr8:38853200-38854600	Active TSS	Primary T cells fromperipheralblood	blood
35	chr8:38853200-38854600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:38853200-38854600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:38853200-38854600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:38853200-38854600	Active TSS	Fetal Thymus	thymus
39	chr8:38853200-38854600	Active TSS	Thymus	Thymus
40	chr8:38853200-38855000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:38853200-38855200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:38853200-38855200	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:38853200-38855200	Active TSS	Pancreas	Pancrea
44	chr8:38853200-38855200	Active TSS	Spleen	Spleen
45	chr8:38853200-38855400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr8:38853200-38855600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:38853200-38855800	Active TSS	Fetal Kidney	kidney
48	chr8:38853200-38856000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr8:38853200-38856000	Active TSS	Brain Anterior Caudate	brain
50	chr8:38853200-38856000	Active TSS	Psoas Muscle	Psoas

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