Variant report

Variant	rs12508946
Chromosome Location	chr4:77127771-77127772
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77126443..77128731-chr4:77132915..77135566,2	MCF-7	breast:
2	chr4:77122262..77124788-chr4:77127198..77129570,2	K562	blood:
3	chr4:77117574..77120210-chr4:77127527..77130330,2	K562	blood:
4	chr4:77125920..77131688-chr4:77131770..77137672,14	K562	blood:

Variant related genes	Relation type
ENSG00000138760	Chromatin interaction
ENSG00000189157	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17001561	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17001654	0.94[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2119733	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4376175	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6532244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6829784	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6835324	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72655523	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72655532	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72655536	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655538	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72655539	0.90[AMR][1000 genomes];0.99[EUR][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	esv1799666	chr4:77119942-77129568	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77113200-77134000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:77113600-77134200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:77117000-77134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:77117200-77129200	Enhancers	Liver	Liver
5	chr4:77117400-77132800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:77120000-77130200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:77120200-77129400	Enhancers	Brain Substantia Nigra	brain
8	chr4:77120200-77129600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:77120400-77129200	Weak transcription	NHEK	skin
10	chr4:77120400-77129400	Weak transcription	Hela-S3	cervix
11	chr4:77120400-77129800	Weak transcription	Dnd41	blood
12	chr4:77121000-77128200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:77121000-77129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:77121200-77129400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:77121400-77128800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:77121400-77129200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:77121400-77129200	Weak transcription	NH-A	brain
18	chr4:77121400-77129600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:77121400-77129800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:77121400-77132800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:77121400-77133600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:77121400-77134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:77121600-77129600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:77121600-77131000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:77122000-77127800	Weak transcription	Aorta	Aorta
26	chr4:77122000-77129400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:77122200-77128800	Weak transcription	HUVEC	blood vessel
28	chr4:77122200-77129000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:77122200-77129600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:77122200-77130800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:77122400-77128600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:77122400-77129000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:77122400-77129000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:77122400-77129200	Weak transcription	Colonic Mucosa	Colon
35	chr4:77122400-77129600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:77122400-77129600	Weak transcription	Esophagus	oesophagus
37	chr4:77122400-77133600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:77122600-77128200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr4:77122600-77128200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:77122600-77129200	Weak transcription	Primary B cells from cord blood	blood
41	chr4:77122600-77129600	Weak transcription	Fetal Thymus	thymus
42	chr4:77122600-77129800	Weak transcription	Thymus	Thymus
43	chr4:77123000-77127800	Weak transcription	Brain Germinal Matrix	brain
44	chr4:77123000-77128200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:77123200-77128400	Weak transcription	HepG2	liver
46	chr4:77123200-77129600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:77124200-77128200	Enhancers	Fetal Brain Male	brain
48	chr4:77124600-77129600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:77124800-77129000	Enhancers	Fetal Brain Female	brain
50	chr4:77124800-77129200	Enhancers	NHLF	lung

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