Variant report

Variant	rs561659330
Chromosome Location	chr2:173940141-173940142
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	MAZ	chr2:173940089-173941626	K562	blood:	n/a	chr2:173940764-173940774
2	CHD1	chr2:173939685-173944195	IMR90	lung:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
3	MAX	chr2:173940034-173940826	H1-hESC	embryonic stem cell:	n/a	chr2:173940764-173940774
4	POLR2A	chr2:173939908-173942230	PANC-1	pancreas:	n/a	n/a
5	MYC	chr2:173940135-173942075	K562	blood:	n/a	chr2:173940764-173940774
6	MAX	chr2:173940102-173941762	HepG2	liver:	n/a	chr2:173940764-173940774
7	POLR2A	chr2:173940031-173942071	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr2:173939924-173944210	IMR90	lung:	n/a	chr2:173942414-173942423 chr2:173940764-173940774
9	SIN3A	chr2:173940072-173941664	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr2:173939907-173940258	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr2:173940133-173941600	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:173939730-173945222	MCF10A-Er-Src	breast:	n/a	n/a
13	MTA3	chr2:173940071-173940813	GM12878	blood:	n/a	n/a
14	MAX	chr2:173940111-173941672	K562	blood:	n/a	chr2:173940764-173940774
15	MAX	chr2:173940054-173940816	ECC-1	luminal epithelium:	n/a	chr2:173940764-173940774
16	POLR2A	chr2:173937409-173945617	MCF10A-Er-Src	breast:	n/a	n/a
17	TBP	chr2:173940049-173942057	K562	blood:	n/a	n/a
18	ZNF263	chr2:173939768-173941499	HEK293-T-REx	kidney:	n/a	n/a
19	MXI1	chr2:173939609-173943667	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr2:173939601-173942224	PANC-1	pancreas:	n/a	n/a
21	E2F6	chr2:173940141-173940784	A549	lung:	n/a	chr2:173940530-173940537 chr2:173940529-173940538 chr2:173940755-173940767 chr2:173940530-173940537 chr2:173940530-173940537
22	MXI1	chr2:173940101-173940848	GM12878	blood:	n/a	n/a
23	CHD2	chr2:173940121-173941570	K562	blood:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
24	TCF12	chr2:173940077-173940735	A549	lung:	n/a	n/a
25	POLR2A	chr2:173940093-173941943	GM12878	blood:	n/a	n/a
26	RAD21	chr2:173939842-173942107	SK-N-SH	brain:	n/a	chr2:173940860-173940873
27	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
28	MXI1	chr2:173940000-173942160	IMR90	lung:	n/a	n/a
29	RCOR1	chr2:173940078-173942002	K562	blood:	n/a	n/a
30	ZBTB7A	chr2:173940015-173940956	ECC-1	luminal epithelium:	n/a	chr2:173940769-173940778
31	MAX	chr2:173939967-173940889	A549	lung:	n/a	chr2:173940764-173940774
32	ZBTB7A	chr2:173939925-173940876	ECC-1	luminal epithelium:	n/a	chr2:173940769-173940778
33	CTCF	chr2:173940109-173940886	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr2:173939866-173940415	K562	blood:	n/a	n/a
35	POLR2A	chr2:173940135-173942066	GM12891	blood:	n/a	n/a
36	CTCF	chr2:173939595-173941069	A549	lung:	n/a	chr2:173941032-173941045
37	MAX	chr2:173939965-173941852	A549	lung:	n/a	chr2:173940764-173940774

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
ENSG00000144354	Chromatin interaction
ENSG00000265709	Chromatin interaction
ENSG00000238133	Chromatin interaction
ENSG00000091428	Chromatin interaction
ENSG00000236391	Chromatin interaction
ENSG00000172845	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173938800-173940200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:173938800-173940400	Enhancers	Fetal Heart	heart
3	chr2:173939600-173940200	Enhancers	Psoas Muscle	Psoas
4	chr2:173939600-173940200	Enhancers	NHDF-Ad	bronchial
5	chr2:173939600-173940400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr2:173939800-173940200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr2:173939800-173940200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:173939800-173940200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:173939800-173940200	Enhancers	Fetal Lung	lung
10	chr2:173939800-173940400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:173939800-173940400	Flanking Active TSS	A549	lung
12	chr2:173939800-173940600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr2:173939800-173940600	Flanking Active TSS	Dnd41	blood
14	chr2:173939800-173940600	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:173940000-173940200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr2:173940000-173940200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr2:173940000-173940200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:173940000-173940200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:173940000-173940200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr2:173940000-173940200	Enhancers	Primary T cells from cord blood	blood
21	chr2:173940000-173940200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr2:173940000-173940200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:173940000-173940200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:173940000-173940200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:173940000-173940200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:173940000-173940200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:173940000-173940200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:173940000-173940200	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:173940000-173940200	Active TSS	Brain Hippocampus Middle	brain
30	chr2:173940000-173940200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr2:173940000-173940200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr2:173940000-173940200	Flanking Active TSS	Fetal Brain Female	brain
33	chr2:173940000-173940200	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr2:173940000-173940200	Enhancers	Placenta	Placenta
35	chr2:173940000-173940200	Flanking Active TSS	Left Ventricle	heart
36	chr2:173940000-173940200	Enhancers	Pancreas	Pancrea
37	chr2:173940000-173940200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:173940000-173940200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
39	chr2:173940000-173940200	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:173940000-173940200	Flanking Active TSS	Right Atrium	heart
41	chr2:173940000-173940200	Active TSS	Right Ventricle	heart
42	chr2:173940000-173940200	Enhancers	Small Intestine	intestine
43	chr2:173940000-173940200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr2:173940000-173940200	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr2:173940000-173940200	Enhancers	HSMM	muscle
46	chr2:173940000-173940200	Enhancers	NHLF	lung
47	chr2:173940000-173940400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:173940000-173940400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:173940000-173940400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr2:173940000-173940400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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