Variant report

Variant	rs17851881
Chromosome Location	chr2:85981761-85981762
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	CTCF	chr2:85981725-85982083	IMR90	lung:	n/a	n/a
2	TCF7L2	chr2:85980560-85982278	HCT-116	colon:	n/a	chr2:85981977-85981991
3	POLR2A	chr2:85981608-85982215	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr2:85981760-85981910	AG10803	skin:	n/a	n/a
5	E2F6	chr2:85980750-85982405	A549	lung:	n/a	chr2:85980931-85980938
6	CTCF	chr2:85981660-85981810	HCT-116	colon:	n/a	n/a
7	ZBTB7A	chr2:85981614-85982280	ECC-1	luminal epithelium:	n/a	n/a
8	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
9	CTBP2	chr2:85980328-85982657	H1-hESC	embryonic stem cell:	n/a	n/a
10	HDAC2	chr2:85980844-85982249	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:85981740-85981890	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr2:85981721-85981901	K562	blood:	n/a	n/a
13	SIN3A	chr2:85981722-85982334	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:85981685-85981868	A549	lung:	n/a	n/a
15	REST	chr2:85981583-85982359	H1-neurons	neurons:	n/a	chr2:85982320-85982340
16	CTCF	chr2:85981760-85981910	AG04449	skin:	n/a	n/a
17	CTCF	chr2:85981680-85981830	GM12873	blood:	n/a	n/a
18	CTCF	chr2:85981733-85981947	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:85981720-85981870	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr2:85981740-85981890	GM12864	blood:	n/a	n/a
21	MAX	chr2:85981759-85982236	ECC-1	luminal epithelium:	n/a	chr2:85982144-85982154
22	POLR2A	chr2:85980769-85982739	HUVEC	blood vessel:	n/a	n/a
23	TCF12	chr2:85980660-85982516	A549	lung:	n/a	n/a
24	POLR2A	chr2:85980497-85982286	ProgFib	skin:	n/a	n/a
25	CTCF	chr2:85981740-85981890	GM12867	blood:	n/a	n/a
26	E2F6	chr2:85981146-85982237	A549	lung:	n/a	n/a
27	CTCF	chr2:85981749-85981929	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:85980740-85982247	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr2:85981720-85981870	HRPEpiC	eye:	n/a	n/a
30	MAX	chr2:85981566-85982278	H1-hESC	embryonic stem cell:	n/a	chr2:85982144-85982154
31	HDAC2	chr2:85981397-85982111	HepG2	liver:	n/a	n/a
32	CHD1	chr2:85980409-85983348	IMR90	lung:	n/a	chr2:85980799-85980809 chr2:85980931-85980938
33	CTCF	chr2:85981740-85981890	GM12869	blood:	n/a	n/a
34	CTCF	chr2:85981620-85981770	GM12870	blood:	n/a	n/a
35	GABPA	chr2:85981316-85981872	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr2:85981740-85981890	Hela-S3	cervix:	n/a	n/a
37	TCF7L2	chr2:85981547-85982498	HEK293	kidney:	n/a	chr2:85981977-85981991
38	HA-E2F1	chr2:85980827-85982187	MCF-7	breast:	n/a	chr2:85980931-85980938
39	TAF1	chr2:85981658-85982301	H1-neurons	neurons:	n/a	n/a
40	CTCF	chr2:85981760-85981910	HVMF	connective:	n/a	n/a
41	CTCF	chr2:85981680-85981830	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr2:85981740-85981890	HVMF	connective:	n/a	n/a
43	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
44	POLR2A	chr2:85981722-85982929	IMR90	lung:	n/a	n/a
45	POLR2A	chr2:85981633-85982217	H1-neurons	neurons:	n/a	n/a
46	CTCF	chr2:85981745-85981940	MCF-7	breast:	n/a	n/a
47	TCF7L2	chr2:85980809-85982366	PANC-1	pancreas:	n/a	chr2:85981977-85981991
48	CTCF	chr2:85981760-85981910	GM12875	blood:	n/a	n/a
49	POLR2A	chr2:85981432-85982229	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:85981293..85984643-chr2:85987254..85991080,5	MCF-7	breast:
2	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:
3	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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2280317	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85980000-85982800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr2:85980000-85983000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:85980000-85983400	Active TSS	Right Atrium	heart
4	chr2:85980200-85982400	Active TSS	Fetal Kidney	kidney
5	chr2:85980200-85983200	Active TSS	Left Ventricle	heart
6	chr2:85980200-85983400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:85980200-85983400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:85980200-85983600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr2:85980200-85984400	Active TSS	Aorta	Aorta
10	chr2:85980400-85981800	Weak transcription	Fetal Heart	heart
11	chr2:85980400-85982000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:85980400-85982200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr2:85980400-85982200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:85980400-85982200	Bivalent Enhancer	Fetal Brain Male	brain
15	chr2:85980400-85982400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:85980400-85982400	Active TSS	Brain Angular Gyrus	brain
17	chr2:85980400-85982600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:85980400-85982600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:85980400-85982600	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:85980400-85982600	Active TSS	Colon Smooth Muscle	Colon
21	chr2:85980400-85982800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:85980400-85982800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:85980400-85983000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:85980400-85983000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:85980400-85983200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr2:85980400-85983400	Active TSS	Brain Substantia Nigra	brain
27	chr2:85980400-85983600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:85980400-85983800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr2:85980600-85981800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:85980600-85981800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:85980600-85981800	Bivalent/Poised TSS	HepG2	liver
32	chr2:85980600-85982000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:85980600-85982000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr2:85980600-85982200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:85980600-85982400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:85980600-85982400	Active TSS	Ovary	ovary
37	chr2:85980600-85982400	Active TSS	Rectal Smooth Muscle	rectum
38	chr2:85980600-85982400	Active TSS	Right Ventricle	heart
39	chr2:85980600-85982400	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:85980600-85982600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:85980600-85982600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:85980600-85982600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:85980600-85982600	Active TSS	Osteobl	bone
44	chr2:85980600-85982800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:85980600-85982800	Active TSS	Hela-S3	cervix
46	chr2:85980600-85983400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:85980600-85983400	Active TSS	Brain Anterior Caudate	brain
48	chr2:85980600-85983400	Active TSS	HSMM	muscle
49	chr2:85980600-85983400	Active TSS	NHDF-Ad	bronchial
50	chr2:85980600-85983600	Active TSS	HSMMtube	muscle

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