Variant report

Variant	rs370540409
Chromosome Location	chr8:61817374-61817375
allele	C/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	ATF2	chr8:61815624-61817391	GM12878	blood:	n/a	n/a
2	CEBPB	chr8:61815763-61817408	GM12878	blood:	n/a	chr8:61816914-61816925 chr8:61816913-61816924
3	CREB1	chr8:61815558-61817462	GM12878	blood:	n/a	chr8:61816088-61816101
4	GATA1	chr8:61815488-61817403	K562	blood:	n/a	chr8:61816190-61816206 chr8:61816685-61816692 chr8:61816685-61816692 chr8:61816685-61816692 chr8:61816377-61816387 chr8:61816685-61816695 chr8:61816683-61816693
5	CREB1	chr8:61815839-61817382	GM12878	blood:	n/a	chr8:61816088-61816101
6	NFATC1	chr8:61815908-61817377	GM12878	blood:	n/a	n/a
7	ATF2	chr8:61815744-61817395	GM12878	blood:	n/a	n/a
8	PML	chr8:61815836-61817396	GM12878	blood:	n/a	n/a
9	NFIC	chr8:61815437-61817426	GM12878	blood:	n/a	n/a
10	RUNX3	chr8:61815494-61817479	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000271377	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61812000-61817600	Enhancers	Primary T cells from cord blood	blood
2	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
3	chr8:61814200-61817400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr8:61814600-61817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:61814800-61817400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:61815600-61817400	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:61815600-61818000	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:61816000-61817400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:61816000-61817400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:61816200-61817800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:61816800-61817600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:61816800-61820600	Weak transcription	Small Intestine	intestine
13	chr8:61816800-61821200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:61816800-61821200	Weak transcription	Colonic Mucosa	Colon
15	chr8:61816800-61821200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:61816800-61821200	Weak transcription	NH-A	brain
17	chr8:61816800-61821400	Weak transcription	Osteobl	bone
18	chr8:61817000-61817400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:61817000-61817400	Enhancers	HUVEC	blood vessel
20	chr8:61817000-61817600	Enhancers	Fetal Intestine Large	intestine
21	chr8:61817000-61817600	Enhancers	Stomach Mucosa	stomach
22	chr8:61817000-61818000	Weak transcription	Fetal Thymus	thymus
23	chr8:61817000-61818000	Weak transcription	Pancreas	Pancrea
24	chr8:61817000-61820200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:61817000-61820400	Weak transcription	Primary B cells from cord blood	blood
26	chr8:61817000-61821000	Weak transcription	Adipose Nuclei	Adipose
27	chr8:61817000-61821200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:61817000-61821200	Weak transcription	HSMM	muscle
29	chr8:61817000-61821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:61817200-61817400	Enhancers	HepG2	liver
31	chr8:61817200-61817600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr8:61817200-61818000	Weak transcription	Fetal Intestine Small	intestine
33	chr8:61817200-61820000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:61817200-61820200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:61817200-61820400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:61817200-61820600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:61817200-61820800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:61817200-61820800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:61817200-61820800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:61817200-61820800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:61817200-61820800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:61817200-61821000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:61817200-61821000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:61817200-61821000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:61817200-61821000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:61817200-61821200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:61817200-61821200	Weak transcription	Fetal Lung	lung

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