Variant report

Variant	rs2695214
Chromosome Location	chr4:102079736-102079737
allele	A/C
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	FOSL1	chr4:102079196-102080644	HCT-116	colon:	n/a	chr4:102079847-102079857 chr4:102080467-102080475 chr4:102079604-102079616 chr4:102079846-102079858 chr4:102079847-102079857 chr4:102079848-102079856
2	JUN	chr4:102079704-102079822	K562	blood:	n/a	n/a
3	FOXA2	chr4:102079712-102080189	A549	lung:	n/a	n/a
4	FOSL2	chr4:102079709-102080000	A549	lung:	n/a	chr4:102079847-102079857 chr4:102079846-102079858 chr4:102079847-102079857 chr4:102079848-102079856
5	EP300	chr4:102079559-102080090	A549	lung:	n/a	n/a
6	FOSL2	chr4:102079601-102080076	A549	lung:	n/a	chr4:102079847-102079857 chr4:102079604-102079616 chr4:102079846-102079858 chr4:102079847-102079857 chr4:102079848-102079856
7	GATA3	chr4:102079533-102080172	A549	lung:	n/a	chr4:102079849-102079858 chr4:102079846-102079855
8	EP300	chr4:102079536-102079989	A549	lung:	n/a	n/a
9	JUND	chr4:102079167-102080212	HCT-116	colon:	n/a	chr4:102079847-102079857 chr4:102079604-102079616 chr4:102079846-102079858 chr4:102079847-102079857 chr4:102079848-102079856
10	CEBPB	chr4:102079630-102080129	A549	lung:	n/a	chr4:102079920-102079932
11	POLR2A	chr4:102079269-102079950	HCT-116	colon:	n/a	n/a
12	TCF12	chr4:102079529-102080156	A549	lung:	n/a	n/a
13	SP1	chr4:102079170-102080622	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
PPP3CA	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1527351	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2659510	0.80[CEU][hapmap]
rs2659551	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs2695213	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs2695218	0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs2850988	0.80[EUR][1000 genomes]
rs2850992	0.84[CEU][hapmap]
rs3017892	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102062600-102090400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:102074200-102080800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:102074600-102080600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:102075200-102080600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:102075400-102084200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:102076200-102079800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:102076400-102080000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:102076400-102080000	Enhancers	NH-A	brain
9	chr4:102076400-102080400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:102076400-102080600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:102076400-102080600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:102076400-102080600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:102076400-102080600	Enhancers	NHLF	lung
14	chr4:102076400-102080800	Enhancers	Brain Hippocampus Middle	brain
15	chr4:102076800-102080200	Enhancers	HSMM	muscle
16	chr4:102077800-102080600	Enhancers	Brain Angular Gyrus	brain
17	chr4:102078000-102079800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr4:102078000-102079800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:102078000-102080000	Enhancers	Brain Substantia Nigra	brain
20	chr4:102078000-102080400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:102078000-102080600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:102078200-102079800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:102078200-102080200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:102078200-102080600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:102078200-102081000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:102078400-102080000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:102078400-102080000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:102078400-102080000	Strong transcription	Primary B cells from cord blood	blood
29	chr4:102078400-102093200	Weak transcription	HUVEC	blood vessel
30	chr4:102078400-102096600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:102078600-102079800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:102078600-102088400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:102078600-102090200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:102078800-102080000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:102078800-102082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:102078800-102084000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:102078800-102084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:102078800-102084000	Weak transcription	HMEC	breast
39	chr4:102078800-102096000	Weak transcription	Ovary	ovary
40	chr4:102079000-102088800	Weak transcription	Fetal Intestine Small	intestine
41	chr4:102079200-102079800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:102079200-102079800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:102079200-102079800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr4:102079200-102080400	Flanking Active TSS	A549	lung
45	chr4:102079400-102079800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:102079400-102079800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:102079400-102079800	Flanking Active TSS	HSMMtube	muscle
48	chr4:102079400-102080000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:102079400-102113800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:102079600-102079800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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