Variant report

Variant	rs4421955
Chromosome Location	chr15:100106646-100106647
allele	G/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	MAX	chr15:100104636-100107183	HepG2	liver:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
2	POLR2A	chr15:100104866-100107196	GM18526	blood:	n/a	n/a
3	POLR2A	chr15:100105043-100107600	IMR90	lung:	n/a	n/a
4	MAZ	chr15:100105134-100107727	IMR90	lung:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
5	MAZ	chr15:100105305-100106721	Hela-S3	cervix:	n/a	chr15:100105913-100105922 chr15:100105610-100105619 chr15:100105627-100105636
6	POLR2A	chr15:100104544-100107315	Raji	blood:	n/a	n/a
7	E2F6	chr15:100105285-100107202	K562	blood:	n/a	chr15:100107161-100107178 chr15:100106118-100106127 chr15:100105667-100105677
8	POLR2A	chr15:100104543-100107408	GM18505	blood:	n/a	n/a
9	POLR2A	chr15:100106616-100107616	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:100104827-100107518	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:100105256-100107145	NB4	blood:	n/a	n/a
12	MXI1	chr15:100104968-100108088	SK-N-SH	brain:	n/a	chr15:100107634-100107649 chr15:100107636-100107651
13	POLR2A	chr15:100104530-100107155	GM18951	blood:	n/a	n/a
14	POLR2A	chr15:100106611-100107069	Hela-S3	cervix:	n/a	n/a
15	CHD1	chr15:100105106-100108685	IMR90	lung:	n/a	chr15:100105377-100105387
16	SMARCB1	chr15:100104696-100107228	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr15:100104906-100107166	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:100104493-100107234	GM12892	blood:	n/a	n/a
19	POLR2A	chr15:100105218-100106796	HUVEC	blood vessel:	n/a	n/a
20	TAF1	chr15:100106598-100107176	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr15:100106640-100107223	GM12892	blood:	n/a	n/a
22	CHD2	chr15:100105001-100107174	Hela-S3	cervix:	n/a	chr15:100105377-100105387
23	POLR2A	chr15:100105374-100106760	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr15:100105408-100107060	K562	blood:	n/a	n/a
25	POLR2A	chr15:100106627-100107248	GM12892	blood:	n/a	n/a
26	POLR2A	chr15:100105153-100107129	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:100105311-100106873	HepG2	liver:	n/a	n/a
28	REST	chr15:100105223-100107133	H1-neurons	neurons:	n/a	chr15:100105666-100105676 chr15:100105676-100105689 chr15:100105232-100105252 chr15:100105372-100105385 chr15:100105648-100105658 chr15:100106314-100106327
29	E2F6	chr15:100105932-100106856	K562	blood:	n/a	chr15:100106118-100106127
30	ZBTB7A	chr15:100105987-100107220	ECC-1	luminal epithelium:	n/a	n/a
31	ZBTB7A	chr15:100105824-100107357	ECC-1	luminal epithelium:	n/a	chr15:100105933-100105942
32	E2F1	chr15:100105275-100106845	Hela-S3	cervix:	n/a	chr15:100106118-100106127 chr15:100105667-100105677
33	POLR2A	chr15:100105607-100106737	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZBTB7A	chr15:100106251-100106704	K562	blood:	n/a	n/a
35	UBTF	chr15:100106037-100107355	K562	blood:	n/a	n/a
36	ZBTB7A	chr15:100106027-100107135	K562	blood:	n/a	n/a
37	POLR2A	chr15:100105428-100106827	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr15:100105202-100106832	MCF-7	breast:	n/a	n/a
39	POLR2A	chr15:100104332-100107446	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:100105278-100106724	ProgFib	skin:	n/a	n/a
41	MXI1	chr15:100104333-100107903	IMR90	lung:	n/a	chr15:100107634-100107649 chr15:100107636-100107651
42	UBTF	chr15:100105068-100107440	K562	blood:	n/a	n/a
43	POLR2A	chr15:100104664-100107172	GM19193	blood:	n/a	n/a
44	POLR2A	chr15:100104447-100107217	GM12892	blood:	n/a	n/a
45	HA-E2F1	chr15:100105262-100106886	Hela-S3	cervix:	n/a	chr15:100106118-100106127 chr15:100105667-100105677
46	POLR2A	chr15:100106624-100106852	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr15:100104706-100107212	GM15510	blood:	n/a	n/a
48	MAZ	chr15:100106567-100107136	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:100104665-100107065	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:100104091..100109623-chr15:100241901..100248412,10	MCF-7	breast:
2	chr15:100105316..100107211-chr15:100246606..100248832,2	MCF-7	breast:
3	chr15:100104936..100107605-chr15:100221549..100224496,2	MCF-7	breast:
4	chr15:99900193..99901836-chr15:100106225..100109193,2	MCF-7	breast:
5	chr15:100105670..100107207-chr15:100272767..100275061,2	MCF-7	breast:
6	chr15:100104819..100107629-chr15:100257615..100260464,2	MCF-7	breast:

Variant related genes	Relation type
MEF2A	TF binding region
ENSG00000214397	Chromatin interaction
ENSG00000168904	Chromatin interaction
ENSG00000201724	Chromatin interaction
ENSG00000183060	Chromatin interaction
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11852739	0.84[ASN][1000 genomes]
rs12899961	0.82[ASN][1000 genomes]
rs12902009	0.84[ASN][1000 genomes]
rs1434232	0.86[ASN][1000 genomes]
rs2570823	0.81[ASN][1000 genomes]
rs2570825	0.87[ASN][1000 genomes]
rs2581467	0.80[ASN][1000 genomes]
rs2581468	0.84[ASN][1000 genomes]
rs4405533	0.88[ASN][1000 genomes]
rs4424892	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7162392	0.84[ASN][1000 genomes]
rs7165899	0.85[ASN][1000 genomes]
rs892465	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv904558	chr15:100019382-100171684	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3438354	chr15:100105454-100108002	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100105000-100107000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:100105000-100107200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr15:100105000-100107400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:100105000-100107600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr15:100105000-100107600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:100105000-100107800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:100105000-100108200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr15:100105000-100108400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr15:100105000-100108800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:100105200-100107200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:100105200-100107200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:100105200-100107200	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr15:100105200-100107200	Bivalent/Poised TSS	HepG2	liver
14	chr15:100105200-100107200	Active TSS	Osteobl	bone
15	chr15:100105200-100107400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:100105200-100107400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:100105200-100107400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:100105200-100107400	Active TSS	Fetal Brain Female	brain
19	chr15:100105200-100107400	Active TSS	Gastric	stomach
20	chr15:100105200-100107600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr15:100105200-100107600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:100105200-100107600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:100105200-100107600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:100105200-100107600	Active TSS	Brain Angular Gyrus	brain
25	chr15:100105200-100107600	Active TSS	Fetal Kidney	kidney
26	chr15:100105200-100107800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr15:100105200-100107800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:100105200-100107800	Active TSS	Fetal Intestine Large	intestine
29	chr15:100105200-100107800	Active TSS	Ovary	ovary
30	chr15:100105200-100108000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr15:100105200-100108000	Active TSS	HSMM	muscle
32	chr15:100105200-100108200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr15:100105200-100108200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr15:100105200-100108200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:100105200-100108200	Active TSS	HSMMtube	muscle
36	chr15:100105200-100108400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr15:100105200-100109400	Active TSS	Right Atrium	heart
38	chr15:100105400-100106800	Active TSS	Primary T cells fromperipheralblood	blood
39	chr15:100105400-100106800	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr15:100105400-100106800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:100105400-100107000	Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:100105400-100107000	Active TSS	Adipose Nuclei	Adipose
43	chr15:100105400-100107000	Active TSS	HUVEC	blood vessel
44	chr15:100105400-100107000	Active TSS	K562	blood
45	chr15:100105400-100107200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:100105400-100107200	Active TSS	Primary T cells from cord blood	blood
47	chr15:100105400-100107200	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr15:100105400-100107200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:100105400-100107200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr15:100105400-100107200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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