Variant report

Variant	rs3816642
Chromosome Location	chr4:104115199-104115200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104114264..104116741-chr4:104117857..104119545,2	K562	blood:
2	chr4:104114580..104116727-chr4:104117703..104119602,3	MCF-7	breast:
3	chr4:104105024..104107868-chr4:104114811..104117329,2	K562	blood:

Variant related genes	Relation type
ENSG00000138778	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11734396	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12502620	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12505012	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12506575	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12508128	0.84[EUR][1000 genomes]
rs17033423	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17217250	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17283278	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243682	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276974	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276975	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290943	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615538	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2615541	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2615542	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623062	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623063	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2623069	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623076	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623082	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711888	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711889	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711891	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2711893	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711894	0.82[AMR][1000 genomes]
rs2711895	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2711896	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711900	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2711901	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720447	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720449	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720450	0.82[EUR][1000 genomes]
rs2720451	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720452	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720453	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720455	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720456	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720457	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720463	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720465	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720467	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2720470	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4698879	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55708783	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55777543	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58477215	0.80[EUR][1000 genomes]
rs59355472	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68023422	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830082	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847142	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847357	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665085	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72665089	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666813	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7435875	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7672974	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9760911	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830022	chr4:104087199-104257784	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104058200-104118400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:104073600-104118400	Weak transcription	Fetal Kidney	kidney
3	chr4:104089800-104118200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:104089800-104119000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:104090000-104118000	Weak transcription	Fetal Stomach	stomach
6	chr4:104090000-104118600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:104090000-104119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:104090200-104118200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:104090200-104118200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:104090200-104118200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:104090200-104118200	Weak transcription	Fetal Intestine Small	intestine
12	chr4:104090400-104118200	Weak transcription	Fetal Brain Male	brain
13	chr4:104090600-104117600	Weak transcription	Fetal Heart	heart
14	chr4:104090800-104118200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:104095200-104118800	Weak transcription	Adipose Nuclei	Adipose
16	chr4:104097000-104119000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:104099000-104118200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:104099200-104118200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:104099400-104118200	Weak transcription	Fetal Brain Female	brain
20	chr4:104099600-104118200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:104100400-104118200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:104100800-104118400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:104101000-104118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:104101600-104118200	Weak transcription	Fetal Intestine Large	intestine
25	chr4:104102200-104118000	Weak transcription	HepG2	liver
26	chr4:104102200-104118200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:104104600-104119000	Weak transcription	Ovary	ovary
28	chr4:104105400-104117800	Weak transcription	Osteobl	bone
29	chr4:104106200-104116800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:104106800-104119000	Weak transcription	Stomach Mucosa	stomach
31	chr4:104108200-104116800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:104108200-104117800	Weak transcription	NHLF	lung
33	chr4:104108200-104118000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:104108200-104118000	Weak transcription	Thymus	Thymus
35	chr4:104108200-104118200	Weak transcription	Primary B cells from cord blood	blood
36	chr4:104112000-104117200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:104112600-104117800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:104113000-104115600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:104113000-104115600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:104113000-104115800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:104113000-104116400	Strong transcription	HUVEC	blood vessel
42	chr4:104113000-104116400	Strong transcription	NHEK	skin
43	chr4:104113000-104116600	Strong transcription	Dnd41	blood
44	chr4:104113000-104117400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr4:104113000-104117400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:104113000-104117400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:104113000-104117400	Strong transcription	Fetal Thymus	thymus
48	chr4:104113000-104117600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:104113000-104117600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:104113000-104117600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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