Variant report

Variant	rs17001648
Chromosome Location	chr4:77128911-77128912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77122262..77124788-chr4:77127198..77129570,2	K562	blood:
2	chr4:77117574..77120210-chr4:77127527..77130330,2	K562	blood:
3	chr4:77125920..77131688-chr4:77131770..77137672,14	K562	blood:
4	chr4:77122932..77125835-chr4:77128901..77130952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189157	Chromatin interaction
ENSG00000138760	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11934628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938219	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11944780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001553	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001556	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2228380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28655570	1.00[EUR][1000 genomes]
rs34078946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34647444	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34865218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35211143	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35634209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35866970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4129291	1.00[AMR][1000 genomes]
rs56891967	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58990415	1.00[EUR][1000 genomes]
rs59199771	1.00[EUR][1000 genomes]
rs59815580	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876319	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60319873	1.00[EUR][1000 genomes]
rs60541751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60744184	1.00[EUR][1000 genomes]
rs61079077	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61313750	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832579	1.00[EUR][1000 genomes]
rs7672121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs999358	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs999359	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:110 , 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	chr4:77121000-77129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:77121200-77129400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:77121400-77129200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:77121400-77129200	Weak transcription	NH-A	brain
16	chr4:77121400-77129600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:77121400-77129800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:77121400-77132800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:77121400-77133600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:77121400-77134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:77121600-77129600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:77121600-77131000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:77122000-77129400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:77122200-77129000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:77122200-77129600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:77122200-77130800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:77122400-77129000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:77122400-77129000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:77122400-77129200	Weak transcription	Colonic Mucosa	Colon
30	chr4:77122400-77129600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:77122400-77129600	Weak transcription	Esophagus	oesophagus
32	chr4:77122400-77133600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:77122600-77129200	Weak transcription	Primary B cells from cord blood	blood
34	chr4:77122600-77129600	Weak transcription	Fetal Thymus	thymus
35	chr4:77122600-77129800	Weak transcription	Thymus	Thymus
36	chr4:77123200-77129600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:77124600-77129600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:77124800-77129000	Enhancers	Fetal Brain Female	brain
39	chr4:77124800-77129200	Enhancers	NHLF	lung
40	chr4:77125200-77129200	Enhancers	Brain Anterior Caudate	brain
41	chr4:77125200-77130000	Weak transcription	Spleen	Spleen
42	chr4:77126400-77129200	Enhancers	Colon Smooth Muscle	Colon
43	chr4:77126800-77129200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:77126800-77129200	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:77126800-77129200	Enhancers	HSMM	muscle
46	chr4:77126800-77129200	Enhancers	HSMMtube	muscle
47	chr4:77126800-77129200	Enhancers	NHDF-Ad	bronchial
48	chr4:77126800-77129400	Enhancers	Adipose Nuclei	Adipose
49	chr4:77127000-77129200	Enhancers	Osteobl	bone
50	chr4:77127000-77129400	Enhancers	Fetal Lung	lung

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