Variant report

Variant	rs538907167
Chromosome Location	chr2:10442126-10442127
allele	A/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	POLR2A	chr2:10441852-10444651	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr2:10441102-10442492	HepG2	liver:	n/a	n/a
3	MYC	chr2:10442125-10444016	A549	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
4	POLR2A	chr2:10441735-10443554	K562	blood:	n/a	n/a
5	HDAC2	chr2:10441303-10443996	HepG2	liver:	n/a	chr2:10443666-10443685
6	RAD21	chr2:10441925-10448398	SK-N-SH	brain:	n/a	chr2:10445901-10445913 chr2:10443150-10443164 chr2:10444235-10444248 chr2:10444579-10444593 chr2:10446784-10446791
7	MAX	chr2:10440682-10444624	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
8	POLR2A	chr2:10442091-10442158	MCF-7	breast:	n/a	n/a
9	POLR2A	chr2:10441906-10443455	Raji	blood:	n/a	n/a
10	MYBL2	chr2:10441021-10443695	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:10441946-10442317	HepG2	liver:	n/a	n/a
12	CTCF	chr2:10442020-10442170	Caco-2	colon:	n/a	n/a
13	MAZ	chr2:10442124-10445257	IMR90	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
14	ELF1	chr2:10442099-10443505	GM12878	blood:	n/a	chr2:10442857-10442869 chr2:10442434-10442446 chr2:10442632-10442645
15	TAF1	chr2:10442122-10444001	HepG2	liver:	n/a	n/a
16	HDAC2	chr2:10442099-10443040	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:10441016-10443943	HepG2	liver:	n/a	n/a
18	MAX	chr2:10442036-10444467	MCF-7	breast:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
19	FOXA1	chr2:10441949-10443219	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:10441120-10442911	HepG2	liver:	n/a	n/a
21	MYC	chr2:10442072-10442233	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:10441505-10443270	K562	blood:	n/a	n/a
23	MAX	chr2:10441745-10444932	A549	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
24	CTCF	chr2:10442060-10442210	GM06990	blood:	n/a	n/a
25	MXI1	chr2:10441040-10446748	SK-N-SH	brain:	n/a	chr2:10443806-10443815 chr2:10443808-10443817 chr2:10441998-10442013
26	YY1	chr2:10442118-10443330	HepG2	liver:	n/a	n/a
27	MYBL2	chr2:10441007-10443089	HepG2	liver:	n/a	n/a
28	MAX	chr2:10440984-10445011	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
29	RCOR1	chr2:10442018-10442888	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:10441113-10442879	HepG2	liver:	n/a	n/a
31	CTCF	chr2:10442037-10444954	A549	lung:	n/a	chr2:10444547-10444556 chr2:10442232-10442241 chr2:10444236-10444249 chr2:10442477-10442485 chr2:10443153-10443166
32	POLR2A	chr2:10441116-10442876	HepG2	liver:	n/a	n/a
33	RUNX3	chr2:10442052-10442429	GM12878	blood:	n/a	chr2:10442139-10442156
34	EP300	chr2:10442116-10443169	HepG2	liver:	n/a	chr2:10443150-10443166
35	HEY1	chr2:10440976-10443359	HepG2	liver:	n/a	chr2:10442577-10442592 chr2:10442848-10442863
36	NR2F2	chr2:10442124-10443127	MCF-7	breast:	n/a	n/a
37	JUN	chr2:10441863-10443361	K562	blood:	n/a	chr2:10441970-10441979
38	MBD4	chr2:10440931-10442910	HepG2	liver:	n/a	n/a
39	RUNX3	chr2:10441915-10442295	GM12878	blood:	n/a	chr2:10442139-10442156
40	EP300	chr2:10441965-10442978	HepG2	liver:	n/a	n/a
41	NFIC	chr2:10440966-10442231	HepG2	liver:	n/a	n/a
42	FOSL2	chr2:10441144-10442431	HepG2	liver:	n/a	chr2:10441970-10441979
43	RFX5	chr2:10442016-10442140	HepG2	liver:	n/a	n/a
44	CEBPD	chr2:10442003-10443347	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:10441194-10443568	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10424782..10426457-chr2:10440963..10442554,2	K562	blood:
2	chr2:10261055..10262657-chr2:10441629..10443172,2	K562	blood:
3	chr2:10440329..10443014-chr2:10447614..10450153,3	K562	blood:
4	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
5	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
6	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
7	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
8	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
9	chr2:10441262..10442820-chr2:10525916..10527574,2	MCF-7	breast:
10	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
11	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:
12	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
13	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:
14	chr2:10183111..10185258-chr2:10441327..10442852,2	K562	blood:

Variant related genes	Relation type
HPCAL1	TF binding region
ENSG00000264030	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000206898	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3356298	chr2:10441526-10444374	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv3367929	chr2:10441951-10444149	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10436600-10442200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:10438600-10442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:10438600-10442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:10438600-10442200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:10438600-10442200	Weak transcription	Psoas Muscle	Psoas
6	chr2:10438600-10442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:10438800-10442200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:10438800-10442200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:10438800-10442200	Weak transcription	HMEC	breast
10	chr2:10438800-10442200	Weak transcription	HSMMtube	muscle
11	chr2:10438800-10442200	Weak transcription	NHDF-Ad	bronchial
12	chr2:10438800-10442200	Weak transcription	NHEK	skin
13	chr2:10438800-10442200	Weak transcription	Osteobl	bone
14	chr2:10438800-10442600	Weak transcription	NHLF	lung
15	chr2:10439000-10442200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:10439000-10442400	Weak transcription	HSMM	muscle
17	chr2:10439000-10442400	Weak transcription	NH-A	brain
18	chr2:10440600-10442200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:10440600-10442200	Enhancers	Fetal Thymus	thymus
20	chr2:10441000-10442200	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:10441000-10442400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr2:10441000-10442400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:10441000-10442600	Enhancers	Stomach Mucosa	stomach
24	chr2:10441200-10442200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:10441200-10442200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:10441200-10442200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:10441200-10442400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr2:10441200-10442600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:10441400-10442200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:10441400-10442200	Weak transcription	Esophagus	oesophagus
31	chr2:10441400-10442200	Weak transcription	Fetal Heart	heart
32	chr2:10441400-10442600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr2:10441400-10442600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr2:10441400-10442600	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr2:10441600-10442200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:10441600-10442200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:10441600-10442200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:10441600-10442200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:10441600-10442400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:10441600-10442400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:10441600-10442400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr2:10441600-10442600	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr2:10441600-10442600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:10441600-10442600	Enhancers	Spleen	Spleen
45	chr2:10441600-10442800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:10441600-10444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:10441800-10442200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:10441800-10442200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:10441800-10442200	Enhancers	Fetal Lung	lung
50	chr2:10441800-10442200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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