Variant report

Variant	rs3730154
Chromosome Location	chr10:49609578-49609579
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49514733..49517675-chr10:49606696..49609603,2	K562	blood:
2	chr10:49514542..49516292-chr10:49606736..49609603,3	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10735224	0.92[AFR][1000 genomes]
rs10735225	0.92[AFR][1000 genomes]
rs10776599	0.92[AFR][1000 genomes]
rs10776605	1.00[GIH][hapmap]
rs10857567	1.00[CEU][hapmap]
rs10857570	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11101265	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs11816450	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12249536	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12252237	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1429801	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1429802	1.00[CEU][hapmap]
rs1542153	1.00[EUR][1000 genomes]
rs1550774	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1623017	1.00[CEU][hapmap]
rs17011328	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1867575	1.00[GIH][hapmap]
rs1881739	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1919705	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1978998	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2463956	1.00[LWK][hapmap]
rs2590379	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590380	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590387	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590388	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590390	0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698760	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698765	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2698769	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41301111	1.00[EUR][1000 genomes]
rs4141840	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4281444	0.81[AFR][1000 genomes]
rs4385845	0.82[ASW][hapmap]
rs58181014	0.81[AFR][1000 genomes]
rs59377405	1.00[EUR][1000 genomes]
rs60467447	1.00[EUR][1000 genomes]
rs61343950	1.00[EUR][1000 genomes]
rs7072065	1.00[EUR][1000 genomes]
rs7073628	1.00[EUR][1000 genomes]
rs7085678	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs7098618	1.00[CEU][hapmap]
rs73293121	1.00[EUR][1000 genomes]
rs73293181	1.00[EUR][1000 genomes]
rs73293198	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73298383	1.00[EUR][1000 genomes]
rs73300395	1.00[EUR][1000 genomes]
rs74130210	0.83[EUR][1000 genomes]
rs74130216	1.00[EUR][1000 genomes]
rs7893756	0.82[ASW][hapmap]
rs7894863	0.92[AFR][1000 genomes]
rs7901179	1.00[EUR][1000 genomes]
rs7915014	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49595000-49616000	Weak transcription	Primary B cells from cord blood	blood
2	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:49598800-49612800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:49599200-49622200	Weak transcription	HepG2	liver
5	chr10:49599800-49618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:49600000-49612400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:49600000-49613400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr10:49600000-49613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:49600000-49618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:49600200-49612400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr10:49600200-49617400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:49600200-49618200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr10:49600400-49616800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:49601200-49613800	Weak transcription	Primary T cells from cord blood	blood
16	chr10:49605200-49618000	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:49606200-49609800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:49606200-49609800	Enhancers	Brain Angular Gyrus	brain
19	chr10:49606800-49609800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:49606800-49619800	Weak transcription	Fetal Stomach	stomach
21	chr10:49607000-49609800	Enhancers	HMEC	breast
22	chr10:49607000-49612400	Weak transcription	Dnd41	blood
23	chr10:49607600-49609800	Enhancers	Brain Substantia Nigra	brain
24	chr10:49607600-49610200	Weak transcription	Fetal Brain Female	brain
25	chr10:49607600-49613800	Weak transcription	Placenta	Placenta
26	chr10:49607600-49614200	Weak transcription	Right Atrium	heart
27	chr10:49607600-49616600	Weak transcription	Fetal Thymus	thymus
28	chr10:49607600-49616800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:49607600-49618000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr10:49607600-49619400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:49607600-49619600	Weak transcription	Colonic Mucosa	Colon
32	chr10:49607600-49619600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:49607600-49624200	Weak transcription	Gastric	stomach
34	chr10:49607600-49624200	Weak transcription	Lung	lung
35	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:49607800-49614200	Weak transcription	Fetal Heart	heart
38	chr10:49607800-49614200	Weak transcription	Psoas Muscle	Psoas
39	chr10:49607800-49616800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr10:49607800-49620400	Weak transcription	Stomach Mucosa	stomach
41	chr10:49608000-49609600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr10:49608000-49614200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr10:49608000-49614400	Weak transcription	Ovary	ovary
44	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr10:49608200-49610600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:49608200-49618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:49608200-49618200	Weak transcription	Fetal Kidney	kidney
48	chr10:49608200-49619400	Weak transcription	Colon Smooth Muscle	Colon
49	chr10:49608200-49621000	Weak transcription	Small Intestine	intestine
50	chr10:49608200-49634400	Weak transcription	Rectal Mucosa Donor 31	rectum

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