Variant report

Variant	rs74076986
Chromosome Location	chr1:63250611-63250612
allele	A/G
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	JUND	chr1:63249309-63250820	K562	blood:	n/a	n/a
2	MYC	chr1:63249321-63250746	K562	blood:	n/a	n/a
3	SREBP1	chr1:63248941-63250964	GM12878	blood:	n/a	n/a
4	MYC	chr1:63249306-63250889	K562	blood:	n/a	n/a
5	MYC	chr1:63250554-63250875	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr1:63249365-63250652	K562	blood:	n/a	n/a
7	HCFC1	chr1:63248974-63250678	Hela-S3	cervix:	n/a	n/a
8	RUNX3	chr1:63249062-63250786	GM12878	blood:	n/a	n/a
9	ATF1	chr1:63249309-63250639	K562	blood:	n/a	n/a
10	POLR2A	chr1:63249300-63250652	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:63249365-63250752	GM18526	blood:	n/a	n/a
12	UBTF	chr1:63249496-63250877	K562	blood:	n/a	n/a
13	POLR2A	chr1:63249087-63250917	GM12891	blood:	n/a	n/a
14	IRF1	chr1:63249251-63250910	K562	blood:	n/a	n/a
15	POLR2A	chr1:63249387-63250914	K562	blood:	n/a	n/a
16	POLR2A	chr1:63249396-63250880	K562	blood:	n/a	n/a
17	REST	chr1:63249129-63250723	H1-neurons	neurons:	n/a	chr1:63249784-63249804 chr1:63249787-63249800
18	CUX1	chr1:63249477-63250834	K562	blood:	n/a	chr1:63250326-63250340
19	POLR2A	chr1:63249208-63250852	GM12878	blood:	n/a	n/a
20	E2F4	chr1:63250340-63250650	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:63249221-63250684	GM19099	blood:	n/a	n/a
22	GATA1	chr1:63249071-63250967	PBDE	blood:	n/a	chr1:63249311-63249319 chr1:63249335-63249345 chr1:63250145-63250162

No.	Distal block	Cell Line	Cell type
1	chr1:63151590..63154458-chr1:63248689..63251365,3	K562	blood:
2	chr1:63151590..63154458-chr1:63248689..63250715,2	K562	blood:
3	chr1:63248645..63252231-chr1:63283517..63287217,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK7-2	chr1:63250593-63250730	NONHSAT003642

Variant related genes	Relation type
ATG4C	TF binding region
ENSG00000116641	Chromatin interaction
ENSG00000125703	Chromatin interaction
ENSG00000235545	Chromatin interaction

rs_ID	r²[population]
rs10159254	1.00[AMR][1000 genomes]
rs56006426	1.00[AMR][1000 genomes]
rs57256059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57455846	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57811553	1.00[AMR][1000 genomes]
rs58618719	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58682223	1.00[AMR][1000 genomes]
rs58986719	1.00[AMR][1000 genomes]
rs59325087	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60492584	1.00[AMR][1000 genomes]
rs74076921	1.00[AMR][1000 genomes]
rs74076930	1.00[AMR][1000 genomes]
rs74076942	1.00[AMR][1000 genomes]
rs74076988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076998	1.00[AMR][1000 genomes]
rs74078303	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078338	1.00[AMR][1000 genomes]
rs74078341	1.00[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63248400-63250800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:63248800-63250800	Active TSS	Brain Germinal Matrix	brain
3	chr1:63248800-63250800	Active TSS	Right Ventricle	heart
4	chr1:63248800-63251000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:63248800-63251000	Active TSS	Right Atrium	heart
6	chr1:63248800-63251000	Active TSS	A549	lung
7	chr1:63248800-63252000	Active TSS	Brain Hippocampus Middle	brain
8	chr1:63248800-63252200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:63249000-63250800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:63249000-63250800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:63249000-63250800	Active TSS	Colonic Mucosa	Colon
12	chr1:63249000-63250800	Active TSS	Left Ventricle	heart
13	chr1:63249000-63250800	Active TSS	HSMM	muscle
14	chr1:63249000-63250800	Active TSS	HSMMtube	muscle
15	chr1:63249000-63251000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:63249000-63251000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:63249000-63251000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:63249000-63251000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:63249000-63251000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:63249000-63251000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:63249000-63251000	Active TSS	Fetal Stomach	stomach
22	chr1:63249000-63251000	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:63249000-63251000	Active TSS	GM12878-XiMat	blood
24	chr1:63249000-63251000	Active TSS	NHLF	lung
25	chr1:63249000-63251200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:63249000-63251400	Active TSS	Psoas Muscle	Psoas
27	chr1:63249000-63251800	Active TSS	Brain Substantia Nigra	brain
28	chr1:63249000-63252000	Active TSS	Brain Anterior Caudate	brain
29	chr1:63249000-63252000	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:63249000-63252600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:63249200-63250800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:63249200-63250800	Active TSS	Aorta	Aorta
33	chr1:63249200-63250800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr1:63249200-63250800	Active TSS	Fetal Muscle Trunk	muscle
35	chr1:63249200-63250800	Active TSS	Fetal Muscle Leg	muscle
36	chr1:63249200-63250800	Active TSS	NHDF-Ad	bronchial
37	chr1:63249200-63251000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:63249200-63251000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:63249200-63251000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:63249200-63251000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:63249200-63251000	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:63249200-63251200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:63249200-63251400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:63249400-63250800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr1:63249400-63250800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:63249400-63250800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:63249400-63250800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:63249400-63251000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr1:63249400-63251000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr1:63249400-63251400	Active TSS	HUES48 Cell Line	embryonic stem cell

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