Variant report

Variant	rs576338994
Chromosome Location	chr2:173940437-173940438
allele	-/C
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	RELA	chr2:173940245-173942075	GM12891	blood:	n/a	n/a
2	FOXA2	chr2:173940194-173940841	A549	lung:	n/a	n/a
3	POLR2A	chr2:173940248-173941962	GM18505	blood:	n/a	n/a
4	ELF1	chr2:173940266-173941637	GM12878	blood:	n/a	chr2:173940752-173940764 chr2:173940448-173940460 chr2:173941048-173941060
5	POLR2A	chr2:173940403-173941476	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr2:173940408-173940776	GM12878	blood:	n/a	chr2:173940764-173940774
7	RAD21	chr2:173940385-173940760	Hela-S3	cervix:	n/a	n/a
8	MYC	chr2:173940396-173941567	MCF10A-Er-Src	breast:	n/a	chr2:173940764-173940774
9	POLR2A	chr2:173940291-173940827	U87	brain:	n/a	n/a
10	POLR2A	chr2:173940313-173941698	GM19193	blood:	n/a	n/a
11	MAZ	chr2:173940089-173941626	K562	blood:	n/a	chr2:173940764-173940774
12	CHD1	chr2:173939685-173944195	IMR90	lung:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
13	POLR2A	chr2:173940413-173940821	H1-neurons	neurons:	n/a	n/a
14	CTCF	chr2:173940418-173940633	K562	blood:	n/a	n/a
15	HEY1	chr2:173940402-173941572	HepG2	liver:	n/a	chr2:173940821-173940836 chr2:173940488-173940503 chr2:173940445-173940460
16	CTCF	chr2:173940405-173940701	A549	lung:	n/a	n/a
17	ELF1	chr2:173940325-173940887	K562	blood:	n/a	chr2:173940752-173940764 chr2:173940448-173940460
18	MAX	chr2:173940034-173940826	H1-hESC	embryonic stem cell:	n/a	chr2:173940764-173940774
19	CTCF	chr2:173940404-173940713	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:173940366-173941649	Hela-S3	cervix:	n/a	n/a
21	RAD21	chr2:173940329-173941057	H1-hESC	embryonic stem cell:	n/a	chr2:173940860-173940873
22	MAX	chr2:173940257-173941448	ECC-1	luminal epithelium:	n/a	chr2:173940764-173940774
23	SMC3	chr2:173940360-173941958	Hela-S3	cervix:	n/a	chr2:173941334-173941342 chr2:173941035-173941045
24	POLR2A	chr2:173940247-173940862	U87	brain:	n/a	n/a
25	CTCF	chr2:173940400-173940711	GM19238	blood:	n/a	n/a
26	MAZ	chr2:173940333-173941429	HepG2	liver:	n/a	chr2:173940764-173940774
27	MYC	chr2:173940280-173941460	NB4	blood:	n/a	chr2:173940764-173940774
28	POLR2A	chr2:173940370-173941277	A549	lung:	n/a	n/a
29	MAX	chr2:173940169-173941826	HepG2	liver:	n/a	chr2:173940764-173940774
30	YY1	chr2:173940252-173941393	GM12878	blood:	n/a	chr2:173940978-173940987 chr2:173940973-173940987 chr2:173941041-173941055 chr2:173940447-173940461 chr2:173940973-173940982 chr2:173941035-173941049
31	POLR2A	chr2:173939908-173942230	PANC-1	pancreas:	n/a	n/a
32	TAL1	chr2:173940281-173940668	K562	blood:	n/a	n/a
33	RAD21	chr2:173940225-173940854	A549	lung:	n/a	n/a
34	JUND	chr2:173940197-173940881	K562	blood:	n/a	n/a
35	RUNX3	chr2:173940233-173940787	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:173940299-173941363	A549	lung:	n/a	n/a
37	MYC	chr2:173940135-173942075	K562	blood:	n/a	chr2:173940764-173940774
38	CTCF	chr2:173940367-173940629	A549	lung:	n/a	n/a
39	POLR2A	chr2:173940430-173940894	GM12878	blood:	n/a	n/a
40	POLR2A	chr2:173940171-173941981	K562	blood:	n/a	n/a
41	TAF1	chr2:173940341-173941629	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr2:173940102-173941762	HepG2	liver:	n/a	chr2:173940764-173940774
43	MAZ	chr2:173940253-173940827	GM12878	blood:	n/a	chr2:173940764-173940774
44	CTCF	chr2:173940437-173940686	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:173940335-173941521	HL-60	blood:	n/a	n/a
46	TAF1	chr2:173940335-173941300	HepG2	liver:	n/a	n/a
47	CTCF	chr2:173940420-173940570	GM12866	blood:	n/a	n/a
48	YY1	chr2:173940387-173940771	SK-N-SH_RA	brain:	n/a	chr2:173940447-173940461
49	POLR2A	chr2:173940250-173941665	GM18951	blood:	n/a	n/a
50	POLR2A	chr2:173940436-173941628	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:173940430-173940480	ProgFib	skin:	n/a
2	chr2:173940430-173940480	SAEC	small airway:	n/a
3	chr2:173940432-173940482	Hela-S3	cervix:	n/a
4	chr2:173940430-173940480	AG10803	skin:	n/a
5	chr2:173940432-173940482	AG09309	skin:	n/a
6	chr2:173940430-173940480	AG09309	skin:	n/a
7	chr2:173940430-173940480	GM12892	blood:	n/a
8	chr2:173940432-173940482	HepG2	liver:	n/a
9	chr2:173940432-173940482	BE2_C	brain:	n/a
10	chr2:173940432-173940482	AG04450	lung:	fetal
11	chr2:173940432-173940482	PrEC	prostate:	n/a
12	chr2:173940432-173940482	GM12892	blood:	n/a
13	chr2:173940432-173940482	HEK293	kidney:	embryo
14	chr2:173940432-173940482	GM12878	blood:	n/a
15	chr2:173940432-173940482	HCM	heart:	n/a
16	chr2:173940430-173940480	AG04449	skin:	fetal
17	chr2:173940432-173940482	T-47D	breast:	n/a
18	chr2:173940432-173940482	HCPEpiC	choroid plexus:	n/a
19	chr2:173940430-173940480	H1-hESC	embryonic stem cell:	embryo
20	chr2:173940430-173940480	MCF-7	breast:	n/a
21	chr2:173940432-173940482	NHBE	bronchial:	n/a
22	chr2:173940430-173940480	MCF10A-Er-Src	breast:	n/a
23	chr2:173940430-173940480	GM12878	blood:	n/a
24	chr2:173940432-173940482	AG10803	skin:	n/a
25	chr2:173940432-173940482	SAEC	small airway:	n/a
26	chr2:173940430-173940480	HRPEpiC	eye:	n/a
27	chr2:173940432-173940482	ProgFib	skin:	n/a
28	chr2:173940430-173940480	SKMC	muscle:	n/a
29	chr2:173940432-173940482	AG04449	skin:	fetal
30	chr2:173940430-173940480	PrEC	prostate:	n/a
31	chr2:173940432-173940482	NT2-D1	testis:	n/a
32	chr2:173940432-173940482	HCT-116	colon:	n/a
33	chr2:173940430-173940480	HAEpiC	amniotic membrane:	n/a
34	chr2:173940430-173940480	GM12891	blood:	n/a
35	chr2:173940430-173940480	HCF	heart:	n/a
36	chr2:173940432-173940482	HCF	heart:	n/a
37	chr2:173940430-173940480	IMR90	lung:	fetal
38	chr2:173940430-173940480	SK-N-SH_RA	brain:	n/a
39	chr2:173940430-173940480	HUVEC	blood vessel:	n/a
40	chr2:173940432-173940482	GM12891	blood:	n/a
41	chr2:173940430-173940480	NT2-D1	testis:	n/a
42	chr2:173940430-173940480	BJ	skin:	n/a
43	chr2:173940432-173940482	PANC-1	pancreas:	n/a
44	chr2:173940430-173940480	HCM	heart:	n/a
45	chr2:173940430-173940480	NB4	blood:	n/a
46	chr2:173940432-173940482	SK-N-SH	brain:	n/a
47	chr2:173940432-173940482	GM19239	blood:	n/a
48	chr2:173940430-173940480	Hela-S3	cervix:	n/a
49	chr2:173940432-173940482	RPTEC	kidney:	n/a
50	chr2:173940430-173940480	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:173939442..173941828-chr2:174218952..174221644,4	K562	blood:
2	chr2:173939873..173942564-chr2:174828139..174830300,2	K562	blood:
3	chr2:173939516..173941828-chr2:174218952..174221644,5	K562	blood:
4	chr2:173925105..173930317-chr2:173940081..173942061,4	MCF-7	breast:
5	chr2:173939725..173941702-chr2:174219358..174221001,2	MCF-7	breast:
6	chr2:173939894..173941691-chr2:174070697..174073381,2	K562	blood:
7	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	TF binding region
ENSG00000091436	CpG island
ENSG00000265709	Chromatin interaction
ENSG00000091428	Chromatin interaction
ENSG00000238133	Chromatin interaction
ENSG00000144354	Chromatin interaction
ENSG00000172845	Chromatin interaction
ENSG00000236391	Chromatin interaction

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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3371931	chr2:173938506-173943004	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3410281	chr2:173939731-173942579	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3422715	chr2:173940006-173942054	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173939800-173940600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:173939800-173940600	Flanking Active TSS	Dnd41	blood
3	chr2:173939800-173940600	Flanking Active TSS	GM12878-XiMat	blood
4	chr2:173940000-173940600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:173940000-173940600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr2:173940000-173940600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:173940000-173940600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:173940000-173940600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:173940000-173940600	Flanking Active TSS	Thymus	Thymus
10	chr2:173940000-173940600	Flanking Active TSS	HMEC	breast
11	chr2:173940000-173940600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr2:173940000-173941800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:173940000-173941800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:173940000-173941800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:173940000-173941800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:173940000-173941800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:173940000-173941800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:173940000-173941800	Active TSS	NH-A	brain
19	chr2:173940000-173942000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr2:173940000-173942000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:173940000-173942000	Active TSS	Brain Angular Gyrus	brain
22	chr2:173940000-173942000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr2:173940000-173942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:173940000-173942200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:173940000-173942200	Active TSS	Brain Anterior Caudate	brain
26	chr2:173940000-173942200	Active TSS	HSMMtube	muscle
27	chr2:173940000-173942600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:173940000-173942600	Active TSS	Aorta	Aorta
29	chr2:173940000-173942800	Active TSS	Brain Substantia Nigra	brain
30	chr2:173940000-173942800	Active TSS	Ovary	ovary
31	chr2:173940000-173943400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:173940200-173940600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:173940200-173940600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:173940200-173940600	Enhancers	Fetal Brain Male	brain
35	chr2:173940200-173940600	Flanking Active TSS	Pancreas	Pancrea
36	chr2:173940200-173940600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr2:173940200-173941000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr2:173940200-173941000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:173940200-173941200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr2:173940200-173941200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:173940200-173941200	Active TSS	Brain Cingulate Gyrus	brain
42	chr2:173940200-173941200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:173940200-173941400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:173940200-173941400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:173940200-173941600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:173940200-173941600	Active TSS	Gastric	stomach
47	chr2:173940200-173941600	Active TSS	Lung	lung
48	chr2:173940200-173941600	Active TSS	Spleen	Spleen
49	chr2:173940200-173941800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:173940200-173941800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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