Variant report

Variant	rs61763601
Chromosome Location	chr2:187454275-187454276
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	MYC	chr2:187454004-187456027	K562	blood:	n/a	chr2:187454495-187454505 chr2:187454499-187454508
2	GATA3	chr2:187454236-187454974	MCF-7	breast:	n/a	n/a
3	GABPA	chr2:187454147-187454860	A549	lung:	n/a	chr2:187454488-187454497 chr2:187454494-187454503
4	REST	chr2:187454224-187455242	HepG2	liver:	n/a	chr2:187454923-187454932 chr2:187454848-187454861 chr2:187454923-187454936 chr2:187455013-187455026 chr2:187454845-187454854 chr2:187455030-187455040 chr2:187454845-187454858 chr2:187454701-187454714 chr2:187454549-187454562
5	BCLAF1	chr2:187454202-187455109	GM12878	blood:	n/a	chr2:187454493-187454502 chr2:187455010-187455019 chr2:187454488-187454501 chr2:187454494-187454507 chr2:187454810-187454819 chr2:187454741-187454750
6	GABPA	chr2:187454197-187454960	SK-N-SH	brain:	n/a	chr2:187454488-187454497 chr2:187454494-187454503 chr2:187454858-187454867
7	TBL1XR1	chr2:187453843-187454813	K562	blood:	n/a	n/a
8	SIN3AK20	chr2:187454205-187455060	MCF-7	breast:	n/a	n/a
9	SPI1	chr2:187454236-187455068	HL-60	blood:	n/a	chr2:187454711-187454724 chr2:187454671-187454684 chr2:187454672-187454685
10	TCF12	chr2:187454028-187456264	A549	lung:	n/a	chr2:187455930-187455939 chr2:187454762-187454769
11	POLR2A	chr2:187454259-187455193	U87	brain:	n/a	n/a
12	CBX3	chr2:187454217-187454973	K562	blood:	n/a	n/a
13	POLR2A	chr2:187453992-187455192	K562	blood:	n/a	n/a
14	CHD2	chr2:187454229-187456100	GM12878	blood:	n/a	chr2:187455015-187455025 chr2:187454486-187454496
15	MAZ	chr2:187453930-187456329	K562	blood:	n/a	chr2:187454495-187454505 chr2:187454499-187454508
16	POLR2A	chr2:187454183-187455074	HL-60	blood:	n/a	n/a
17	POLR2A	chr2:187453851-187455250	GM18505	blood:	n/a	n/a
18	MBD4	chr2:187453808-187454877	HepG2	liver:	n/a	n/a
19	MXI1	chr2:187453938-187455188	GM12878	blood:	n/a	n/a
20	TBP	chr2:187453907-187455292	K562	blood:	n/a	n/a
21	POLR2A	chr2:187453701-187456091	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:187453965-187455289	NB4	blood:	n/a	n/a
23	EBF1	chr2:187454186-187454821	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:187454236-187455338	Hela-S3	cervix:	n/a	n/a
25	STAT5A	chr2:187454169-187454908	GM12878	blood:	n/a	n/a
26	ARID3A	chr2:187453822-187455000	HepG2	liver:	n/a	n/a
27	MAX	chr2:187454200-187455396	K562	blood:	n/a	chr2:187454495-187454505 chr2:187454499-187454508
28	HCFC1	chr2:187454024-187454987	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr2:187453976-187455266	K562	blood:	n/a	n/a
30	ELF1	chr2:187454241-187455027	MCF-7	breast:	n/a	chr2:187454673-187454684 chr2:187454619-187454632 chr2:187455007-187455019
31	NFIC	chr2:187454233-187455351	HepG2	liver:	n/a	n/a
32	HA-E2F1	chr2:187453864-187455557	MCF-7	breast:	n/a	chr2:187454485-187454497 chr2:187454494-187454503 chr2:187454488-187454497
33	UBTF	chr2:187453843-187456010	K562	blood:	n/a	n/a
34	ELF1	chr2:187454179-187454984	MCF-7	breast:	n/a	chr2:187454673-187454684 chr2:187454619-187454632
35	POLR2A	chr2:187453862-187455370	GM18951	blood:	n/a	n/a
36	ZBTB7A	chr2:187454188-187455215	ECC-1	luminal epithelium:	n/a	chr2:187454573-187454581
37	GABPA	chr2:187454157-187455026	MCF-7	breast:	n/a	chr2:187454488-187454497 chr2:187454494-187454503 chr2:187454858-187454867
38	MAX	chr2:187454212-187455191	SK-N-SH	brain:	n/a	chr2:187454495-187454505 chr2:187454499-187454508
39	REST	chr2:187454153-187455269	HL-60	blood:	n/a	chr2:187454923-187454932 chr2:187454848-187454861 chr2:187454923-187454936 chr2:187455013-187455026 chr2:187454845-187454854 chr2:187455030-187455040 chr2:187454845-187454858 chr2:187454701-187454714 chr2:187454549-187454562
40	POLR2A	chr2:187453972-187456156	HUVEC	blood vessel:	n/a	n/a
41	RCOR1	chr2:187453924-187456224	K562	blood:	n/a	n/a
42	POLR2A	chr2:187453990-187455287	GM15510	blood:	n/a	n/a
43	MAX	chr2:187453655-187456142	A549	lung:	n/a	chr2:187454495-187454505 chr2:187454499-187454508
44	POLR2A	chr2:187453766-187456780	IMR90	lung:	n/a	n/a
45	POLR2A	chr2:187454193-187455354	ProgFib	skin:	n/a	n/a
46	HDAC2	chr2:187454183-187455218	MCF-7	breast:	n/a	chr2:187454723-187454742
47	EP300	chr2:187454270-187456252	K562	blood:	n/a	chr2:187455868-187455875 chr2:187454673-187454682 chr2:187454694-187454710 chr2:187455734-187455748 chr2:187455930-187455940
48	CTCF	chr2:187454160-187455027	K562	blood:	n/a	n/a
49	ELF1	chr2:187454186-187454982	K562	blood:	n/a	chr2:187454673-187454684 chr2:187454619-187454632
50	TCF12	chr2:187454133-187455324	ECC-1	luminal epithelium:	n/a	chr2:187454762-187454769

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:187454259-187454309	PANC-1	pancreas:	n/a
2	chr2:187454259-187454309	NHDF-neo	bronchial:	n/a
3	chr2:187454259-187454309	LNCaP	prostate:	n/a
4	chr2:187454259-187454309	HAEpiC	amniotic membrane:	n/a
5	chr2:187454259-187454309	HIPEpiC	eye:	n/a
6	chr2:187454259-187454309	IMR90	lung:	fetal
7	chr2:187454259-187454309	HRE	kidney:	n/a
8	chr2:187454259-187454309	HRPEpiC	eye:	n/a
9	chr2:187454259-187454309	PFSK-1	brain:	n/a
10	chr2:187454259-187454309	U87	brain:	n/a
11	chr2:187454259-187454309	HEEpiC	esophagus:	n/a
12	chr2:187454259-187454309	NHBE	bronchial:	n/a
13	chr2:187454259-187454309	SK-N-SH_RA	brain:	n/a
14	chr2:187454259-187454309	AG04450	lung:	fetal
15	chr2:187454259-187454309	HEK293	kidney:	embryo
16	chr2:187454259-187454309	HCPEpiC	choroid plexus:	n/a
17	chr2:187454259-187454309	MCF10A-Er-Src	breast:	n/a
18	chr2:187454259-187454309	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:187454259-187454309	AG09319	gingival:	n/a
20	chr2:187454259-187454309	Hepatocyte	liver:	n/a
21	chr2:187454259-187454309	HRCEpiC	kidney:	n/a
22	chr2:187454259-187454309	GM19239	blood:	n/a
23	chr2:187454259-187454309	BE2_C	brain:	n/a
24	chr2:187454259-187454309	T-47D	breast:	n/a
25	chr2:187454259-187454309	MCF-7	breast:	n/a
26	chr2:187454259-187454309	Hela-S3	cervix:	n/a
27	chr2:187454259-187454309	NH-A	brain:	n/a
28	chr2:187454259-187454309	PrEC	prostate:	n/a
29	chr2:187454259-187454309	HCT-116	colon:	n/a
30	chr2:187454259-187454309	CMK	blood:	n/a
31	chr2:187454259-187454309	NB4	blood:	n/a
32	chr2:187454259-187454309	A549	lung:	n/a
33	chr2:187454259-187454309	HCF	heart:	n/a
34	chr2:187454259-187454309	RPTEC	kidney:	n/a
35	chr2:187454259-187454309	K562	blood:	n/a
36	chr2:187454259-187454309	AG10803	skin:	n/a
37	chr2:187454259-187454309	HL-60	blood:	n/a
38	chr2:187454259-187454309	HepG2	liver:	n/a
39	chr2:187454259-187454309	ovcar-3	ovarian:	n/a
40	chr2:187454259-187454309	HCM	heart:	n/a
41	chr2:187454259-187454309	ProgFib	skin:	n/a
42	chr2:187454259-187454309	SAEC	small airway:	n/a
43	chr2:187454259-187454309	AoSMC	blood vessel:	n/a
44	chr2:187454259-187454309	Caco-2	colon:	n/a
45	chr2:187454259-187454309	SK-N-MC	brain:	n/a
46	chr2:187454259-187454309	GM12878	blood:	n/a
47	chr2:187454259-187454309	GM06990	blood:	n/a
48	chr2:187454259-187454309	AG04449	skin:	fetal
49	chr2:187454259-187454309	HUVEC	blood vessel:	n/a
50	chr2:187454259-187454309	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:187370485..187373217-chr2:187453776..187456177,3	MCF-7	breast:
2	chr2:187350070..187352270-chr2:187452591..187455868,3	MCF-7	breast:
3	chr2:187350028..187353171-chr2:187452977..187457092,6	MCF-7	breast:
4	chr2:183901739..183903655-chr2:187454012..187455892,2	MCF-7	breast:
5	chr2:187350319..187353074-chr2:187452754..187457832,8	K562	blood:
6	chr2:187368789..187369555-chr2:187454140..187454681,2	MCF-7	breast:

Variant related genes	Relation type
ITGAV	TF binding region
ITGAV	CpG island
ENSG00000065548	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17333634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17334457	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17406326	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv2756507	chr2:187416494-187470494	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv2753217	chr2:187424494-187470494	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 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	chr2:187453400-187454400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:187453400-187454400	Flanking Active TSS	NHEK	skin
3	chr2:187453400-187456800	Active TSS	Fetal Brain Female	brain
4	chr2:187453600-187454400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:187453600-187456400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:187453600-187458800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:187453800-187454400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:187453800-187454400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:187453800-187454400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr2:187453800-187454400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr2:187453800-187454400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr2:187453800-187454400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:187453800-187454400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr2:187453800-187454400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr2:187453800-187454400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:187453800-187454400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr2:187453800-187454400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:187453800-187454400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:187453800-187454400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:187453800-187454400	Flanking Active TSS	Liver	Liver
21	chr2:187453800-187454400	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr2:187453800-187454400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr2:187453800-187454400	Active TSS	Right Atrium	heart
24	chr2:187453800-187454400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:187453800-187454400	Enhancers	Spleen	Spleen
26	chr2:187453800-187454400	Flanking Active TSS	Dnd41	blood
27	chr2:187453800-187454400	Flanking Active TSS	GM12878-XiMat	blood
28	chr2:187453800-187454400	Flanking Active TSS	Hela-S3	cervix
29	chr2:187453800-187454400	Flanking Active TSS	HUVEC	blood vessel
30	chr2:187453800-187454400	Flanking Active TSS	K562	blood
31	chr2:187453800-187454800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:187453800-187456400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:187453800-187456400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr2:187453800-187456400	Active TSS	Psoas Muscle	Psoas
35	chr2:187453800-187456400	Active TSS	Stomach Mucosa	stomach
36	chr2:187453800-187456600	Active TSS	Brain Anterior Caudate	brain
37	chr2:187453800-187456600	Active TSS	Brain Hippocampus Middle	brain
38	chr2:187453800-187457400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:187453800-187458000	Active TSS	Right Ventricle	heart
40	chr2:187454000-187454400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:187454000-187454400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr2:187454000-187454400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr2:187454000-187454400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr2:187454000-187454400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr2:187454000-187454400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr2:187454000-187454400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:187454000-187454400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr2:187454000-187454400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr2:187454000-187454400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:187454000-187454600	Flanking Active TSS	Primary B cells from cord blood	blood

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