Variant report

Variant	rs56367745
Chromosome Location	chr2:85833326-85833327
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	TBL1XR1	chr2:85833280-85833335	K562	blood:	n/a	n/a
2	POLR2A	chr2:85833261-85833685	K562	blood:	n/a	n/a
3	NFIC	chr2:85832753-85833326	HepG2	liver:	n/a	chr2:85833007-85833023
4	FOXA1	chr2:85832824-85833376	HepG2	liver:	n/a	n/a
5	HEY1	chr2:85832891-85833577	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:85831593-85833831	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:85833078-85833445	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:85832420-85833667	PANC-1	pancreas:	n/a	n/a
9	TEAD4	chr2:85832499-85833419	HepG2	liver:	n/a	chr2:85833245-85833254 chr2:85832722-85832731 chr2:85832962-85832971
10	POLR2A	chr2:85833016-85833524	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr2:85832703-85833582	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr2:85832564-85835446	HepG2	liver:	n/a	n/a
13	ATF1	chr2:85833120-85833398	K562	blood:	n/a	n/a
14	POLR2A	chr2:85833132-85833398	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:85833223-85833498	HCT-116	colon:	n/a	n/a
16	POLR2A	chr2:85833085-85833661	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:85830971-85836753	K562	blood:	n/a	n/a
18	POLR2A	chr2:85833128-85833350	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr2:85832730-85833389	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:85832962-85833721	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:85832593-85833574	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr2:85832634-85833870	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:85832735-85833591	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:85832603-85833529	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:85833135-85833634	PANC-1	pancreas:	n/a	n/a
26	NFIC	chr2:85832728-85833498	HepG2	liver:	n/a	chr2:85833007-85833023
27	POLR2A	chr2:85832720-85833463	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr2:85832747-85833362	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr2:85832408-85833809	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr2:85832508-85833778	K562	blood:	n/a	n/a
31	POLR2A	chr2:85833150-85833584	HCT-116	colon:	n/a	n/a
32	NFIC	chr2:85832669-85833352	ECC-1	luminal epithelium:	n/a	chr2:85833007-85833023
33	ARID3A	chr2:85833280-85833330	K562	blood:	n/a	n/a
34	POLR2A	chr2:85832432-85833659	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr2:85832860-85833600	K562	blood:	n/a	n/a
36	POLR2A	chr2:85833233-85833687	GM12892	blood:	n/a	n/a
37	POLR2A	chr2:85833269-85833466	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr2:85831284-85835767	HepG2	liver:	n/a	n/a
39	NFIC	chr2:85832684-85833368	SK-N-SH	brain:	n/a	chr2:85833007-85833023
40	MYBL2	chr2:85832724-85833503	HepG2	liver:	n/a	n/a
41	JUND	chr2:85833061-85833344	HepG2	liver:	n/a	chr2:85833176-85833185

No.	Distal block	Cell Line	Cell type
1	chr2:85788277..85790552-chr2:85828325..85833718,7	MCF-7	breast:
2	chr2:85786409..85789816-chr2:85832001..85837582,5	MCF-7	breast:
3	chr2:85616830..85619034-chr2:85831650..85834132,2	MCF-7	breast:
4	chr2:85764113..85767301-chr2:85832066..85833710,3	MCF-7	breast:
5	chr2:85621094..85626014-chr2:85830124..85833920,6	MCF-7	breast:
6	chr2:85765201..85768026-chr2:85832043..85835271,3	K562	blood:
7	chr2:85804054..85806144-chr2:85831864..85833379,2	K562	blood:

Variant related genes	Relation type
TMEM150A	TF binding region
ENSG00000042493	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000115486	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1049359	0.87[EUR][1000 genomes]
rs11544042	0.87[EUR][1000 genomes]
rs17736515	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2232739	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41290037	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55671524	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55759724	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547627	0.87[EUR][1000 genomes]
rs72843878	0.87[EUR][1000 genomes]
rs72843879	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7607181	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85830600-85834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:85830600-85835800	Enhancers	Fetal Heart	heart
3	chr2:85830600-85836000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:85830800-85833400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr2:85830800-85833600	Enhancers	Stomach Mucosa	stomach
6	chr2:85830800-85835600	Enhancers	Right Atrium	heart
7	chr2:85830800-85838200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:85830800-85838200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:85830800-85838600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:85831000-85833400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:85831000-85833600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:85831200-85833400	Enhancers	Fetal Intestine Large	intestine
13	chr2:85831200-85833600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:85831200-85833600	Enhancers	Adipose Nuclei	Adipose
15	chr2:85831200-85833600	Enhancers	Brain Anterior Caudate	brain
16	chr2:85831200-85833600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:85831200-85833600	Enhancers	NHDF-Ad	bronchial
18	chr2:85831200-85833800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:85831200-85833800	Enhancers	Brain Hippocampus Middle	brain
20	chr2:85831200-85834600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:85831200-85834600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:85831200-85834600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:85831200-85834800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:85831200-85835800	Weak transcription	Small Intestine	intestine
25	chr2:85831400-85833400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:85831400-85833400	Genic enhancers	Fetal Intestine Small	intestine
27	chr2:85831400-85833600	Enhancers	Brain Angular Gyrus	brain
28	chr2:85831400-85833800	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:85831400-85834000	Weak transcription	Primary B cells from cord blood	blood
30	chr2:85831400-85834400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:85831400-85834600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:85831400-85834600	Enhancers	Placenta	Placenta
33	chr2:85831400-85834600	Weak transcription	GM12878-XiMat	blood
34	chr2:85831400-85834800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:85831400-85836000	Genic enhancers	HSMM	muscle
36	chr2:85831600-85833600	Enhancers	Aorta	Aorta
37	chr2:85831600-85833600	Genic enhancers	K562	blood
38	chr2:85831600-85833800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:85831600-85835200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:85831800-85833600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:85831800-85833600	Flanking Active TSS	Osteobl	bone
42	chr2:85831800-85833800	Genic enhancers	Fetal Muscle Leg	muscle
43	chr2:85832000-85833400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:85832000-85833600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:85832000-85833600	Enhancers	Liver	Liver
46	chr2:85832000-85833800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:85832000-85834400	Weak transcription	Lung	lung
48	chr2:85832000-85834600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:85832000-85834600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:85832000-85834800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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