Variant report

Variant	rs375915976
Chromosome Location	chr2:85980713-85980714
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	POLR2A	chr2:85980642-85981470	HUVEC	blood vessel:	n/a	n/a
2	SIN3A	chr2:85980651-85981502	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF2	chr2:85980575-85980827	H1-hESC	embryonic stem cell:	n/a	chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
4	USF1	chr2:85980437-85980969	H1-hESC	embryonic stem cell:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
5	TCF7L2	chr2:85980560-85982278	HCT-116	colon:	n/a	chr2:85981977-85981991
6	USF1	chr2:85980547-85980850	K562	blood:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
7	MAX	chr2:85980493-85982879	A549	lung:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736 chr2:85982291-85982301 chr2:85982144-85982154 chr2:85982443-85982453
8	POLR2A	chr2:85980706-85981340	HUVEC	blood vessel:	n/a	n/a
9	USF1	chr2:85980615-85980798	HepG2	liver:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
10	MAX	chr2:85980574-85980899	NB4	blood:	n/a	chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736
11	CTBP2	chr2:85980328-85982657	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr2:85980706-85980906	GM12878	blood:	n/a	chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
13	USF1	chr2:85980490-85980957	ECC-1	luminal epithelium:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
14	E2F6	chr2:85980287-85981483	H1-hESC	embryonic stem cell:	n/a	chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980931-85980938
15	BHLHE40	chr2:85980635-85980830	K562	blood:	n/a	chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
16	TCF12	chr2:85980660-85982516	A549	lung:	n/a	n/a
17	POLR2A	chr2:85980497-85982286	ProgFib	skin:	n/a	n/a
18	E2F6	chr2:85980258-85980922	H1-hESC	embryonic stem cell:	n/a	chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980464-85980471
19	USF1	chr2:85980503-85980915	H1-hESC	embryonic stem cell:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
20	MXI1	chr2:85980657-85980794	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr2:85980394-85980981	H1-hESC	embryonic stem cell:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736
22	FOXA2	chr2:85980699-85981380	A549	lung:	n/a	chr2:85981049-85981061
23	ZNF143	chr2:85980583-85980713	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr2:85980606-85980718	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr2:85980409-85983348	IMR90	lung:	n/a	chr2:85980799-85980809 chr2:85980931-85980938
26	TCF12	chr2:85980654-85981462	SK-N-SH	brain:	n/a	n/a
27	USF1	chr2:85980593-85980821	HepG2	liver:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
28	BACH1	chr2:85980430-85980766	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr2:85980438-85980964	H1-hESC	embryonic stem cell:	n/a	chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736
30	CTCF	chr2:85980660-85980810	AG04449	skin:	n/a	n/a
31	MAX	chr2:85980561-85982499	A549	lung:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736 chr2:85982291-85982301 chr2:85982144-85982154 chr2:85982443-85982453
32	USF1	chr2:85980544-85980809	A549	lung:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
33	MAX	chr2:85980580-85980793	K562	blood:	n/a	chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:
2	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:

Variant related genes	Relation type
ATOH8	TF binding region
ENSG00000168874	Chromatin interaction

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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv3326551	chr2:85980466-85983314	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv829487	chr2:85980599-85983121	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85977600-85980800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr2:85979800-85980800	Flanking Active TSS	Brain Hippocampus Middle	brain
3	chr2:85980000-85980800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr2:85980000-85980800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr2:85980000-85980800	Flanking Active TSS	Fetal Lung	lung
6	chr2:85980000-85981000	Bivalent Enhancer	Fetal Thymus	thymus
7	chr2:85980000-85981000	Enhancers	Gastric	stomach
8	chr2:85980000-85982800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr2:85980000-85983000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:85980000-85983400	Active TSS	Right Atrium	heart
11	chr2:85980200-85980800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:85980200-85980800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:85980200-85980800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr2:85980200-85980800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr2:85980200-85980800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr2:85980200-85980800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
17	chr2:85980200-85980800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr2:85980200-85981000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr2:85980200-85981200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
20	chr2:85980200-85981400	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr2:85980200-85981600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
22	chr2:85980200-85982400	Active TSS	Fetal Kidney	kidney
23	chr2:85980200-85983200	Active TSS	Left Ventricle	heart
24	chr2:85980200-85983400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:85980200-85983400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:85980200-85983600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr2:85980200-85984400	Active TSS	Aorta	Aorta
28	chr2:85980400-85980800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
29	chr2:85980400-85980800	Enhancers	Primary B cells from cord blood	blood
30	chr2:85980400-85980800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr2:85980400-85980800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:85980400-85980800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:85980400-85980800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:85980400-85980800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:85980400-85980800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:85980400-85980800	Flanking Active TSS	Liver	Liver
37	chr2:85980400-85980800	Flanking Active TSS	Esophagus	oesophagus
38	chr2:85980400-85980800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chr2:85980400-85980800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr2:85980400-85980800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr2:85980400-85980800	Flanking Active TSS	Lung	lung
42	chr2:85980400-85980800	Enhancers	Pancreas	Pancrea
43	chr2:85980400-85980800	Flanking Active TSS	Psoas Muscle	Psoas
44	chr2:85980400-85980800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr2:85980400-85980800	Enhancers	A549	lung
46	chr2:85980400-85980800	Flanking Active TSS	NH-A	brain
47	chr2:85980400-85980800	Flanking Active TSS	NHLF	lung
48	chr2:85980400-85981000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:85980400-85981000	Bivalent/Poised TSS	Thymus	Thymus
50	chr2:85980400-85981000	Bivalent/Poised TSS	NHEK	skin

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