Variant report

Variant	rs190365369
Chromosome Location	chr2:173940235-173940236
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	FOXA2	chr2:173940194-173940841	A549	lung:	n/a	n/a
2	MAZ	chr2:173940089-173941626	K562	blood:	n/a	chr2:173940764-173940774
3	CHD1	chr2:173939685-173944195	IMR90	lung:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
4	MAX	chr2:173940034-173940826	H1-hESC	embryonic stem cell:	n/a	chr2:173940764-173940774
5	MAX	chr2:173940169-173941826	HepG2	liver:	n/a	chr2:173940764-173940774
6	POLR2A	chr2:173939908-173942230	PANC-1	pancreas:	n/a	n/a
7	RAD21	chr2:173940225-173940854	A549	lung:	n/a	n/a
8	JUND	chr2:173940197-173940881	K562	blood:	n/a	n/a
9	RUNX3	chr2:173940233-173940787	GM12878	blood:	n/a	n/a
10	MYC	chr2:173940135-173942075	K562	blood:	n/a	chr2:173940764-173940774
11	POLR2A	chr2:173940171-173941981	K562	blood:	n/a	n/a
12	MAX	chr2:173940102-173941762	HepG2	liver:	n/a	chr2:173940764-173940774
13	POLR2A	chr2:173940169-173942179	IMR90	lung:	n/a	n/a
14	POLR2A	chr2:173940031-173942071	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr2:173939924-173944210	IMR90	lung:	n/a	chr2:173942414-173942423 chr2:173940764-173940774
16	SIN3A	chr2:173940072-173941664	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr2:173939907-173940258	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr2:173940133-173941600	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:173940191-173941625	K562	blood:	n/a	n/a
20	POLR2A	chr2:173939730-173945222	MCF10A-Er-Src	breast:	n/a	n/a
21	EGR1	chr2:173940167-173940892	K562	blood:	n/a	chr2:173940754-173940764 chr2:173940765-173940778 chr2:173940764-173940779 chr2:173940653-173940667
22	MTA3	chr2:173940071-173940813	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:173940207-173941680	K562	blood:	n/a	n/a
24	MAX	chr2:173940111-173941672	K562	blood:	n/a	chr2:173940764-173940774
25	MAX	chr2:173940054-173940816	ECC-1	luminal epithelium:	n/a	chr2:173940764-173940774
26	HCFC1	chr2:173940165-173941371	K562	blood:	n/a	n/a
27	POLR2A	chr2:173940217-173940908	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr2:173937409-173945617	MCF10A-Er-Src	breast:	n/a	n/a
29	TBP	chr2:173940049-173942057	K562	blood:	n/a	n/a
30	ZNF263	chr2:173939768-173941499	HEK293-T-REx	kidney:	n/a	n/a
31	MXI1	chr2:173939609-173943667	SK-N-SH	brain:	n/a	n/a
32	MYC	chr2:173940155-173942024	K562	blood:	n/a	chr2:173940764-173940774
33	POLR2A	chr2:173939601-173942224	PANC-1	pancreas:	n/a	n/a
34	E2F6	chr2:173940141-173940784	A549	lung:	n/a	chr2:173940530-173940537 chr2:173940529-173940538 chr2:173940755-173940767 chr2:173940530-173940537 chr2:173940530-173940537
35	HDAC2	chr2:173940162-173941220	HepG2	liver:	n/a	chr2:173940785-173940794 chr2:173940496-173940505
36	MXI1	chr2:173940101-173940848	GM12878	blood:	n/a	n/a
37	BACH1	chr2:173940230-173941224	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr2:173940121-173941570	K562	blood:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
39	POLR2A	chr2:173940170-173941327	HCT-116	colon:	n/a	n/a
40	TCF12	chr2:173940077-173940735	A549	lung:	n/a	n/a
41	POLR2A	chr2:173940093-173941943	GM12878	blood:	n/a	n/a
42	RAD21	chr2:173939842-173942107	SK-N-SH	brain:	n/a	chr2:173940860-173940873
43	HA-E2F1	chr2:173940050-173941614	MCF-7	breast:	n/a	chr2:173941438-173941452 chr2:173940530-173940537 chr2:173940529-173940538 chr2:173941038-173941047 chr2:173940755-173940767 chr2:173940530-173940537 chr2:173940530-173940537
44	POLR2A	chr2:173940222-173941307	ECC-1	luminal epithelium:	n/a	n/a
45	MXI1	chr2:173940000-173942160	IMR90	lung:	n/a	n/a
46	E2F6	chr2:173940182-173941291	K562	blood:	n/a	chr2:173940530-173940537 chr2:173940529-173940538 chr2:173941038-173941047 chr2:173940755-173940767 chr2:173940530-173940537 chr2:173940530-173940537
47	RCOR1	chr2:173940078-173942002	K562	blood:	n/a	n/a
48	TCF12	chr2:173940207-173941368	ECC-1	luminal epithelium:	n/a	n/a
49	ZBTB7A	chr2:173940015-173940956	ECC-1	luminal epithelium:	n/a	chr2:173940769-173940778
50	POLR2A	chr2:173940214-173942033	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:173940203-173940253	A549	lung:	n/a
2	chr2:173940203-173940253	GM12892	blood:	n/a
3	chr2:173940203-173940253	Jurkat	blood:	n/a
4	chr2:173940203-173940253	AoSMC	blood vessel:	n/a
5	chr2:173940203-173940253	HIPEpiC	eye:	n/a
6	chr2:173940203-173940253	PrEC	prostate:	n/a
7	chr2:173940203-173940253	ECC-1	luminal epithelium:	n/a
8	chr2:173940203-173940253	PANC-1	pancreas:	n/a
9	chr2:173940203-173940253	SKMC	muscle:	n/a
10	chr2:173940203-173940253	NH-A	brain:	n/a
11	chr2:173940203-173940253	HCF	heart:	n/a
12	chr2:173940203-173940253	HL-60	blood:	n/a
13	chr2:173940203-173940253	HepG2	liver:	n/a
14	chr2:173940203-173940253	GM12891	blood:	n/a
15	chr2:173940203-173940253	NT2-D1	testis:	n/a
16	chr2:173940203-173940253	GM19239	blood:	n/a
17	chr2:173940203-173940253	PFSK-1	brain:	n/a
18	chr2:173940203-173940253	AG04449	skin:	fetal
19	chr2:173940203-173940253	U87	brain:	n/a
20	chr2:173940203-173940253	T-47D	breast:	n/a
21	chr2:173940203-173940253	NB4	blood:	n/a
22	chr2:173940203-173940253	AG10803	skin:	n/a
23	chr2:173940203-173940253	HMEC	breast:	n/a
24	chr2:173940203-173940253	CMK	blood:	n/a
25	chr2:173940203-173940253	HCPEpiC	choroid plexus:	n/a
26	chr2:173940203-173940253	IMR90	lung:	fetal
27	chr2:173940203-173940253	HCT-116	colon:	n/a
28	chr2:173940203-173940253	Caco-2	colon:	n/a
29	chr2:173940203-173940253	K562	blood:	n/a
30	chr2:173940203-173940253	HCM	heart:	n/a
31	chr2:173940203-173940253	GM06990	blood:	n/a
32	chr2:173940203-173940253	Hela-S3	cervix:	n/a
33	chr2:173940203-173940253	HRE	kidney:	n/a
34	chr2:173940203-173940253	SAEC	small airway:	n/a
35	chr2:173940203-173940253	H1-hESC	embryonic stem cell:	embryo
36	chr2:173940203-173940253	SK-N-SH_RA	brain:	n/a
37	chr2:173940203-173940253	AG09309	skin:	n/a
38	chr2:173940203-173940253	MCF10A-Er-Src	breast:	n/a
39	chr2:173940203-173940253	AG09319	gingival:	n/a
40	chr2:173940203-173940253	RPTEC	kidney:	n/a
41	chr2:173940203-173940253	SK-N-SH	brain:	n/a
42	chr2:173940203-173940253	SK-N-MC	brain:	n/a
43	chr2:173940203-173940253	NHBE	bronchial:	n/a
44	chr2:173940203-173940253	BE2_C	brain:	n/a
45	chr2:173940203-173940253	LNCaP	prostate:	n/a
46	chr2:173940203-173940253	HAEpiC	amniotic membrane:	n/a
47	chr2:173940203-173940253	AG04450	lung:	fetal
48	chr2:173940203-173940253	HRCEpiC	kidney:	n/a
49	chr2:173940203-173940253	HRPEpiC	eye:	n/a
50	chr2:173940203-173940253	ProgFib	skin:	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
ENSG00000238133	Chromatin interaction
ENSG00000144354	Chromatin interaction
ENSG00000172845	Chromatin interaction
ENSG00000236391	Chromatin interaction
ENSG00000265709	Chromatin interaction
ENSG00000091428	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	chr2:173938800-173940400	Enhancers	Fetal Heart	heart
2	chr2:173939600-173940400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr2:173939800-173940400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:173939800-173940400	Flanking Active TSS	A549	lung
5	chr2:173939800-173940600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:173939800-173940600	Flanking Active TSS	Dnd41	blood
7	chr2:173939800-173940600	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:173940000-173940400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:173940000-173940400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:173940000-173940400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr2:173940000-173940400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:173940000-173940400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:173940000-173940400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:173940000-173940400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:173940000-173940400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:173940000-173940400	Flanking Active TSS	Liver	Liver
17	chr2:173940000-173940400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr2:173940000-173940400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr2:173940000-173940400	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr2:173940000-173940400	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr2:173940000-173940400	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr2:173940000-173940400	Flanking Active TSS	Fetal Stomach	stomach
23	chr2:173940000-173940400	Flanking Active TSS	Fetal Thymus	thymus
24	chr2:173940000-173940400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:173940000-173940400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr2:173940000-173940400	Flanking Active TSS	Hela-S3	cervix
27	chr2:173940000-173940400	Flanking Active TSS	HUVEC	blood vessel
28	chr2:173940000-173940400	Flanking Active TSS	K562	blood
29	chr2:173940000-173940400	Flanking Active TSS	NHEK	skin
30	chr2:173940000-173940400	Flanking Active TSS	Osteobl	bone
31	chr2:173940000-173940600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr2:173940000-173940600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:173940000-173940600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:173940000-173940600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:173940000-173940600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:173940000-173940600	Flanking Active TSS	Thymus	Thymus
37	chr2:173940000-173940600	Flanking Active TSS	HMEC	breast
38	chr2:173940000-173940600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:173940000-173941800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr2:173940000-173941800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr2:173940000-173941800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:173940000-173941800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:173940000-173941800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr2:173940000-173941800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:173940000-173941800	Active TSS	NH-A	brain
46	chr2:173940000-173942000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr2:173940000-173942000	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr2:173940000-173942000	Active TSS	Brain Angular Gyrus	brain
49	chr2:173940000-173942000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:173940000-173942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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