Variant report

Variant	rs139970204
Chromosome Location	chr2:101183562-101183563
allele	C/T
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	FOXA1	chr2:101183476-101183836	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:101183482-101183749	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101181862..101183562-chr2:101202599..101205264,2	MCF-7	breast:

Variant related genes	Relation type
PDCL3	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv961462	chr2:101183451-101186190	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101180200-101194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:101180400-101183600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:101180400-101186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:101180400-101187200	Weak transcription	Fetal Kidney	kidney
5	chr2:101180400-101188400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:101180600-101185200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:101180600-101187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:101180600-101192600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:101180600-101192800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:101180600-101193400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:101180600-101194400	Weak transcription	NHDF-Ad	bronchial
12	chr2:101180600-101197800	Weak transcription	Stomach Mucosa	stomach
13	chr2:101180800-101187200	Weak transcription	K562	blood
14	chr2:101180800-101195600	Weak transcription	Fetal Heart	heart
15	chr2:101180800-101195800	Strong transcription	Fetal Stomach	stomach
16	chr2:101180800-101196800	Weak transcription	NHLF	lung
17	chr2:101180800-101197000	Weak transcription	Colonic Mucosa	Colon
18	chr2:101180800-101197200	Weak transcription	Small Intestine	intestine
19	chr2:101181000-101195800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:101181200-101191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:101181400-101185200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:101181400-101187400	Weak transcription	Pancreas	Pancrea
23	chr2:101181400-101187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:101181400-101188200	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:101181400-101195800	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:101181400-101196200	Weak transcription	Gastric	stomach
27	chr2:101181400-101196800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:101181600-101188200	Weak transcription	Esophagus	oesophagus
29	chr2:101181600-101196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:101181600-101197200	Weak transcription	Brain Angular Gyrus	brain
31	chr2:101181800-101184400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:101182000-101185400	Strong transcription	A549	lung
33	chr2:101182000-101194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:101182600-101186200	Strong transcription	Brain Hippocampus Middle	brain
35	chr2:101182600-101187000	Strong transcription	Primary B cells from cord blood	blood
36	chr2:101182600-101187800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:101182600-101189200	Strong transcription	Brain Germinal Matrix	brain
38	chr2:101182600-101191600	Strong transcription	Dnd41	blood
39	chr2:101182600-101192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:101182600-101193600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:101182600-101194200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:101182600-101195800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:101182600-101195800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:101182800-101183800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:101182800-101183800	Strong transcription	Hela-S3	cervix
46	chr2:101182800-101184000	Strong transcription	NHEK	skin
47	chr2:101182800-101184200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:101182800-101184200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:101182800-101184200	Strong transcription	Fetal Brain Male	brain
50	chr2:101182800-101184200	Strong transcription	Fetal Lung	lung

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