Variant report

Variant	rs74125849
Chromosome Location	chr1:151612387-151612388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151585204..151586815-chr1:151610072..151612595,2	K562	blood:
2	chr1:151583806..151586204-chr1:151610936..151612672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143376	Chromatin interaction
ENSG00000250734	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1196345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1196469	1.00[AMR][1000 genomes]
rs1308150	1.00[AMR][1000 genomes]
rs1418822	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2843	chr1:151600069-151644709	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151586400-151622200	Weak transcription	Fetal Thymus	thymus
2	chr1:151586400-151626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:151587600-151640600	Weak transcription	Fetal Brain Male	brain
4	chr1:151588000-151626600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:151588200-151620600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:151588200-151665200	Weak transcription	Aorta	Aorta
7	chr1:151589000-151617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:151589000-151620600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:151589600-151613200	Weak transcription	Dnd41	blood
10	chr1:151591000-151630800	Weak transcription	Fetal Kidney	kidney
11	chr1:151591200-151675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:151592000-151622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:151592600-151613200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:151592600-151613600	Weak transcription	NHEK	skin
15	chr1:151592600-151613800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:151592600-151633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:151592800-151630600	Weak transcription	Hela-S3	cervix
18	chr1:151593600-151612600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:151594000-151612400	Weak transcription	HSMM	muscle
20	chr1:151594000-151621000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:151594000-151652800	Weak transcription	Right Ventricle	heart
22	chr1:151594200-151617400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:151594200-151620600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:151594600-151613200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:151597800-151616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:151598400-151613400	Weak transcription	Placenta	Placenta
27	chr1:151601200-151617800	Weak transcription	Fetal Brain Female	brain
28	chr1:151601400-151629800	Weak transcription	Thymus	Thymus
29	chr1:151601600-151613200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:151603000-151663200	Weak transcription	Colonic Mucosa	Colon
31	chr1:151606000-151621800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:151606200-151612600	Enhancers	Colon Smooth Muscle	Colon
33	chr1:151606800-151630800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:151608000-151612600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:151608200-151615000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:151608200-151630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:151608600-151613400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:151608800-151612600	Enhancers	Rectal Smooth Muscle	rectum
39	chr1:151609800-151612800	Enhancers	NH-A	brain
40	chr1:151610000-151612600	Enhancers	Stomach Mucosa	stomach
41	chr1:151610000-151612800	Enhancers	NHLF	lung
42	chr1:151610200-151612600	Enhancers	HepG2	liver
43	chr1:151610200-151612800	Enhancers	Fetal Intestine Small	intestine
44	chr1:151610200-151633800	Weak transcription	HUVEC	blood vessel
45	chr1:151610400-151612400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:151610400-151612800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:151610400-151626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:151610600-151612400	Weak transcription	HSMMtube	muscle
49	chr1:151610600-151612800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:151610600-151613200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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