Variant report

Variant	rs34836942
Chromosome Location	chr1:212148999-212149000
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	MAFF	chr1:212148527-212149053	HepG2	liver:	n/a	chr1:212148887-212148905
2	MAFF	chr1:212148517-212149057	K562	blood:	n/a	chr1:212148887-212148905
3	MAFK	chr1:212148502-212149063	HepG2	liver:	n/a	chr1:212148888-212148902 chr1:212148889-212148900 chr1:212148890-212148901 chr1:212148889-212148900
4	MAFK	chr1:212148506-212149058	HepG2	liver:	n/a	chr1:212148888-212148902 chr1:212148889-212148900 chr1:212148890-212148901 chr1:212148889-212148900
5	MAFK	chr1:212148481-212149060	IMR90	lung:	n/a	chr1:212148888-212148902 chr1:212148889-212148900 chr1:212148890-212148901 chr1:212148889-212148900
6	MAFK	chr1:212148497-212149014	K562	blood:	n/a	chr1:212148888-212148902 chr1:212148889-212148900 chr1:212148890-212148901 chr1:212148889-212148900

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212141020..212143553-chr1:212147214..212150715,3	K562	blood:

Variant related genes	Relation type
INTS7	TF binding region
ENSG00000143493	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17018239	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17018259	0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs17018260	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17018263	1.00[ASW][hapmap];0.93[LWK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs17018265	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17018280	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17018330	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018378	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs17018382	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs17018401	0.85[AFR][1000 genomes]
rs17018414	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs17018509	0.87[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17018527	0.82[AFR][1000 genomes]
rs57590060	0.82[AFR][1000 genomes]
rs58628059	0.94[AFR][1000 genomes]
rs58729268	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58894487	0.93[AFR][1000 genomes]
rs60848591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60875991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676589	0.82[AFR][1000 genomes]
rs73072526	0.98[AFR][1000 genomes]
rs73072531	0.92[AFR][1000 genomes]
rs73072538	0.85[AFR][1000 genomes]
rs73072545	0.85[AFR][1000 genomes]
rs73072552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072557	0.85[AFR][1000 genomes]
rs73089282	1.00[EUR][1000 genomes]
rs73089287	1.00[EUR][1000 genomes]
rs73089293	0.82[AFR][1000 genomes]
rs73089296	0.82[AFR][1000 genomes]
rs73091041	0.93[AFR][1000 genomes]
rs73091053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091059	0.94[AFR][1000 genomes]
rs73091065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091206	0.82[AFR][1000 genomes]
rs73091209	0.82[AFR][1000 genomes]
rs73091210	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7517502	0.82[CEU][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34836942	DTL	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212112000-212170200	Weak transcription	Small Intestine	intestine
2	chr1:212112800-212202000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:212113600-212151600	Weak transcription	Psoas Muscle	Psoas
4	chr1:212113600-212170200	Weak transcription	Fetal Brain Male	brain
5	chr1:212114200-212185800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:212115800-212151600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:212118600-212149000	Weak transcription	Fetal Heart	heart
8	chr1:212123400-212152600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:212123600-212159200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:212123800-212198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:212125400-212149000	Weak transcription	Aorta	Aorta
12	chr1:212125400-212170400	Weak transcription	Brain Anterior Caudate	brain
13	chr1:212125600-212159200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:212125600-212160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:212126000-212157000	Weak transcription	HUVEC	blood vessel
16	chr1:212129000-212167800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:212129400-212204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:212130000-212157600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:212133200-212152600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:212133200-212170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:212133400-212152600	Weak transcription	NHLF	lung
22	chr1:212133400-212157000	Weak transcription	Esophagus	oesophagus
23	chr1:212133400-212159400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:212133400-212188200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:212133600-212149000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:212133600-212151000	Weak transcription	Placenta	Placenta
27	chr1:212133600-212151000	Weak transcription	Right Ventricle	heart
28	chr1:212133600-212151600	Weak transcription	Lung	lung
29	chr1:212133600-212158400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:212133600-212159000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:212133600-212159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:212133600-212159000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:212133600-212159800	Weak transcription	Brain Substantia Nigra	brain
34	chr1:212133600-212170000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:212133600-212170200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:212133600-212174400	Weak transcription	Spleen	Spleen
37	chr1:212133800-212158400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:212133800-212159200	Weak transcription	Thymus	Thymus
39	chr1:212133800-212160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:212133800-212170000	Weak transcription	Pancreas	Pancrea
41	chr1:212133800-212208000	Weak transcription	Gastric	stomach
42	chr1:212134000-212151200	Weak transcription	HepG2	liver
43	chr1:212134000-212159000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:212134000-212159000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:212134000-212207600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:212134000-212207800	Weak transcription	Colonic Mucosa	Colon
47	chr1:212134400-212151000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:212134800-212149000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:212134800-212151600	Weak transcription	Fetal Stomach	stomach
50	chr1:212136600-212204000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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