Variant report

Variant	rs3804361
Chromosome Location	chr4:102117962-102117963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:102117805-102118521	HEK293	kidney:	n/a	n/a
2	POLR2A	chr4:102117934-102118171	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
PPP3CA	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10005338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018021	0.86[EUR][1000 genomes]
rs10025780	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10030389	0.85[EUR][1000 genomes]
rs10050301	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10516471	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13103902	0.86[EUR][1000 genomes]
rs13111186	0.85[EUR][1000 genomes]
rs13112866	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13118966	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13125501	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13128841	0.86[EUR][1000 genomes]
rs13135924	0.85[EUR][1000 genomes]
rs13142024	0.85[EUR][1000 genomes]
rs2048072	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2135611	0.81[AMR][1000 genomes]
rs2174680	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3804368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811063	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827770	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4590038	0.85[EUR][1000 genomes]
rs4698912	0.86[EUR][1000 genomes]
rs4698913	0.85[EUR][1000 genomes]
rs4699106	0.85[EUR][1000 genomes]
rs4699116	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4699127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7677550	0.85[EUR][1000 genomes]
rs950177	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9884638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9995338	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102098600-102118600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:102104400-102119400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:102104400-102119600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:102104400-102119600	Weak transcription	Ovary	ovary
5	chr4:102105400-102126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:102106200-102121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:102107600-102126600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:102109200-102126200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:102109600-102118000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:102109600-102119400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:102109800-102122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:102110000-102118000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:102111200-102122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:102111800-102119600	Weak transcription	Fetal Brain Female	brain
15	chr4:102113000-102118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:102113200-102118600	Weak transcription	Lung	lung
17	chr4:102113200-102119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:102113200-102119800	Weak transcription	Fetal Brain Male	brain
19	chr4:102113200-102121000	Weak transcription	HSMM	muscle
20	chr4:102113200-102122400	Weak transcription	Aorta	Aorta
21	chr4:102113200-102124400	Weak transcription	Pancreas	Pancrea
22	chr4:102113400-102120400	Weak transcription	Fetal Heart	heart
23	chr4:102113400-102120800	Weak transcription	NH-A	brain
24	chr4:102113600-102119400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:102113600-102119600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:102113600-102119600	Weak transcription	Brain Angular Gyrus	brain
27	chr4:102113600-102120600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:102113600-102120800	Weak transcription	Right Ventricle	heart
29	chr4:102113600-102121400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:102113600-102122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:102113800-102118000	Weak transcription	Small Intestine	intestine
32	chr4:102113800-102118200	Weak transcription	Left Ventricle	heart
33	chr4:102113800-102118400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:102113800-102118600	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:102113800-102119600	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:102113800-102119600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:102113800-102119600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:102113800-102119600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:102113800-102119800	Weak transcription	Fetal Kidney	kidney
40	chr4:102113800-102120400	Weak transcription	Brain Substantia Nigra	brain
41	chr4:102113800-102120600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:102113800-102120800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:102113800-102121000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:102113800-102121000	Weak transcription	HMEC	breast
45	chr4:102113800-102122800	Weak transcription	Right Atrium	heart
46	chr4:102113800-102126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:102113800-102127200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:102113800-102131800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:102114000-102118200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:102114000-102119800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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