Variant report

Variant	rs374874106
Chromosome Location	chr4:102082804-102082805
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	SP1	chr4:102082018-102082851	A549	lung:	n/a	n/a
2	CEBPB	chr4:102082137-102083236	HCT-116	colon:	n/a	chr4:102082786-102082797
3	EP300	chr4:102082001-102082821	A549	lung:	n/a	chr4:102082072-102082081
4	SRF	chr4:102082025-102083243	HCT-116	colon:	n/a	chr4:102082980-102082993 chr4:102082978-102082996
5	GATA3	chr4:102081797-102082970	A549	lung:	n/a	chr4:102082653-102082660
6	TCF12	chr4:102081887-102083043	A549	lung:	n/a	n/a
7	FOSL1	chr4:102081781-102083234	HCT-116	colon:	n/a	chr4:102082072-102082080 chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082071-102082081
8	BCL3	chr4:102081992-102082833	A549	lung:	n/a	chr4:102082071-102082080
9	SP1	chr4:102081977-102082813	A549	lung:	n/a	n/a
10	JUND	chr4:102081872-102083084	HCT-116	colon:	n/a	chr4:102082072-102082080 chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082071-102082081
11	SP1	chr4:102081793-102083332	HCT-116	colon:	n/a	n/a
12	CEBPB	chr4:102081867-102083198	HCT-116	colon:	n/a	chr4:102082786-102082797
13	SP1	chr4:102081864-102083202	HCT-116	colon:	n/a	n/a
14	GATA3	chr4:102082376-102082932	SK-N-SH	brain:	n/a	chr4:102082653-102082660
15	EP300	chr4:102081767-102082921	A549	lung:	n/a	chr4:102082072-102082081

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102072492..102076401-chr4:102080849..102083286,3	MCF-7	breast:

Variant related genes	Relation type
PPP3CA	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	esv18835	chr4:102081201-102084993	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv2760883	chr4:102081357-102088150	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102062600-102090400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:102075400-102084200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr4:102078400-102093200	Weak transcription	HUVEC	blood vessel
4	chr4:102078400-102096600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:102078600-102088400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:102078600-102090200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:102078800-102084000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:102078800-102084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:102078800-102084000	Weak transcription	HMEC	breast
10	chr4:102078800-102096000	Weak transcription	Ovary	ovary
11	chr4:102079000-102088800	Weak transcription	Fetal Intestine Small	intestine
12	chr4:102079400-102113800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:102079600-102088800	Weak transcription	Psoas Muscle	Psoas
14	chr4:102079800-102087200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:102079800-102096400	Weak transcription	Adipose Nuclei	Adipose
16	chr4:102080000-102083000	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:102080000-102084200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:102080000-102085200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:102080000-102085200	Weak transcription	Osteobl	bone
20	chr4:102080000-102092200	Weak transcription	NHDF-Ad	bronchial
21	chr4:102080000-102092600	Weak transcription	NH-A	brain
22	chr4:102080200-102085200	Weak transcription	HSMM	muscle
23	chr4:102080400-102084600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:102080400-102087400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:102080400-102088800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:102080600-102093000	Weak transcription	NHLF	lung
27	chr4:102080600-102100600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:102081000-102090200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:102081600-102083000	Enhancers	Brain Anterior Caudate	brain
30	chr4:102082000-102083000	Enhancers	Fetal Brain Female	brain
31	chr4:102082000-102083400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:102082200-102083000	Enhancers	Brain Substantia Nigra	brain
33	chr4:102082200-102083200	Enhancers	Brain Angular Gyrus	brain
34	chr4:102082600-102083000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:102082600-102083000	Enhancers	Brain Hippocampus Middle	brain
36	chr4:102082600-102090000	Weak transcription	Primary B cells from cord blood	blood
37	chr4:102082800-102083000	Flanking Active TSS	A549	lung
38	chr4:102082800-102083200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:102082800-102084000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:102082800-102084000	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:102082800-102084200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:102082800-102084800	Weak transcription	NHEK	skin
43	chr4:102082800-102085200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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