Variant report

Variant	rs13198107
Chromosome Location	chr6:167369540-167369541
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	ELF1	chr6:167369482-167370423	GM12878	blood:	n/a	chr6:167369742-167369753 chr6:167369776-167369785 chr6:167369863-167369875 chr6:167369743-167369752
2	MAX	chr6:167369461-167370734	ECC-1	luminal epithelium:	n/a	n/a
3	YY1	chr6:167369513-167371558	HepG2	liver:	n/a	chr6:167370099-167370108 chr6:167369776-167369785 chr6:167371353-167371365 chr6:167369773-167369782
4	MXI1	chr6:167368808-167371038	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr6:167369525-167371253	K562	blood:	n/a	n/a
6	SIN3AK20	chr6:167369479-167370403	K562	blood:	n/a	n/a
7	MYBL2	chr6:167369501-167372122	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:167368638-167371430	GM12892	blood:	n/a	n/a
9	YY1	chr6:167369529-167370119	ECC-1	luminal epithelium:	n/a	chr6:167370099-167370108 chr6:167369776-167369785 chr6:167369773-167369782
10	ZNF263	chr6:167368679-167371080	HEK293-T-REx	kidney:	n/a	n/a
11	CREB1	chr6:167369344-167371588	HepG2	liver:	n/a	n/a
12	MAX	chr6:167369515-167370457	K562	blood:	n/a	n/a
13	POLR2A	chr6:167369458-167370409	H1-neurons	neurons:	n/a	n/a
14	ELF1	chr6:167368614-167371195	GM12878	blood:	n/a	chr6:167369742-167369753 chr6:167369776-167369785 chr6:167369863-167369875 chr6:167370741-167370750 chr6:167368958-167368969 chr6:167370740-167370751 chr6:167370740-167370751 chr6:167369743-167369752 chr6:167369479-167369491
15	POLR2A	chr6:167368639-167371572	GM18505	blood:	n/a	n/a
16	MAX	chr6:167368501-167371864	HepG2	liver:	n/a	chr6:167369457-167369467
17	POLR2A	chr6:167369386-167371259	K562	blood:	n/a	n/a
18	EP300	chr6:167369462-167370116	ECC-1	luminal epithelium:	n/a	chr6:167369743-167369750 chr6:167369801-167369817 chr6:167370094-167370110 chr6:167369997-167370013 chr6:167369797-167369813 chr6:167369853-167369862
19	MAX	chr6:167369385-167370699	A549	lung:	n/a	chr6:167369457-167369467
20	TAF1	chr6:167369486-167371168	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:167369496-167371190	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:167368732-167371266	NB4	blood:	n/a	n/a
23	POLR2A	chr6:167369489-167369780	K562	blood:	n/a	n/a
24	E2F6	chr6:167369422-167370784	H1-hESC	embryonic stem cell:	n/a	chr6:167369773-167369782 chr6:167370244-167370254 chr6:167370261-167370268 chr6:167370255-167370262 chr6:167370261-167370268 chr6:167370242-167370251 chr6:167370261-167370268
25	MAX	chr6:167369444-167370639	H1-hESC	embryonic stem cell:	n/a	chr6:167369457-167369467
26	TCF12	chr6:167369519-167370801	ECC-1	luminal epithelium:	n/a	chr6:167369696-167369703
27	TAF1	chr6:167369460-167371141	HepG2	liver:	n/a	n/a
28	MAX	chr6:167369500-167370696	SK-N-SH	brain:	n/a	n/a
29	SIN3AK20	chr6:167369480-167370483	PANC-1	pancreas:	n/a	n/a
30	MXI1	chr6:167369486-167371340	HepG2	liver:	n/a	n/a
31	ZBTB7A	chr6:167369463-167370581	K562	blood:	n/a	n/a
32	POLR2A	chr6:167369525-167372091	GM12878	blood:	n/a	n/a
33	E2F6	chr6:167369449-167370720	H1-hESC	embryonic stem cell:	n/a	chr6:167369773-167369782 chr6:167370244-167370254 chr6:167370261-167370268 chr6:167370255-167370262 chr6:167370261-167370268 chr6:167370242-167370251 chr6:167370261-167370268
34	YY1	chr6:167369477-167370622	K562	blood:	n/a	chr6:167370099-167370108 chr6:167369776-167369785 chr6:167369773-167369782
35	HMGN3	chr6:167369191-167371077	K562	blood:	n/a	n/a
36	GABPA	chr6:167369402-167369898	K562	blood:	n/a	n/a
37	POLR2A	chr6:167368581-167371353	HL-60	blood:	n/a	n/a
38	POLR2A	chr6:167369483-167371583	GM12878	blood:	n/a	n/a
39	MAX	chr6:167369438-167370595	H1-hESC	embryonic stem cell:	n/a	chr6:167369457-167369467
40	POLR2A	chr6:167369502-167370460	H1-neurons	neurons:	n/a	n/a
41	MTA3	chr6:167368498-167371426	GM12878	blood:	n/a	n/a
42	UBTF	chr6:167369514-167370589	K562	blood:	n/a	n/a
43	POLR2A	chr6:167369460-167369954	K562	blood:	n/a	n/a
44	MAX	chr6:167369527-167371372	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:167368617-167371420	GM19193	blood:	n/a	n/a
46	ELF1	chr6:167369501-167370345	K562	blood:	n/a	chr6:167369742-167369753 chr6:167369776-167369785 chr6:167369863-167369875 chr6:167369743-167369752
47	POLR2A	chr6:167368758-167373878	GM12891	blood:	n/a	n/a
48	CHD1	chr6:167368696-167371944	GM12878	blood:	n/a	chr6:167370249-167370259 chr6:167370153-167370163 chr6:167369451-167369461 chr6:167370255-167370262
49	MYC	chr6:167369488-167371026	K562	blood:	n/a	n/a
50	HEY1	chr6:167368760-167373820	HepG2	liver:	n/a	chr6:167369448-167369463 chr6:167369857-167369872 chr6:167369766-167369781

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167369491-167369541	U87	brain:	n/a
2	chr6:167369504-167369554	GM06990	blood:	n/a
3	chr6:167369504-167369554	AG04449	skin:	fetal
4	chr6:167369491-167369541	Hepatocyte	liver:	n/a
5	chr6:167369504-167369554	H1-hESC	embryonic stem cell:	embryo
6	chr6:167369491-167369541	RPTEC	kidney:	n/a
7	chr6:167369504-167369554	HCT-116	colon:	n/a
8	chr6:167369504-167369554	MCF10A-Er-Src	breast:	n/a
9	chr6:167369491-167369541	PFSK-1	brain:	n/a
10	chr6:167369491-167369541	AG09319	gingival:	n/a
11	chr6:167369491-167369541	HCF	heart:	n/a
12	chr6:167369491-167369541	GM06990	blood:	n/a
13	chr6:167369491-167369541	NHDF-neo	bronchial:	n/a
14	chr6:167369504-167369554	PANC-1	pancreas:	n/a
15	chr6:167369491-167369541	MCF10A-Er-Src	breast:	n/a
16	chr6:167369491-167369541	HRE	kidney:	n/a
17	chr6:167369491-167369541	GM12891	blood:	n/a
18	chr6:167369504-167369554	Jurkat	blood:	n/a
19	chr6:167369491-167369541	BJ	skin:	n/a
20	chr6:167369491-167369541	CMK	blood:	n/a
21	chr6:167369504-167369554	SK-N-SH_RA	brain:	n/a
22	chr6:167369491-167369541	T-47D	breast:	n/a
23	chr6:167369504-167369554	NHDF-neo	bronchial:	n/a
24	chr6:167369491-167369541	NH-A	brain:	n/a
25	chr6:167369504-167369554	AG09319	gingival:	n/a
26	chr6:167369504-167369554	HUVEC	blood vessel:	n/a
27	chr6:167369504-167369554	HepG2	liver:	n/a
28	chr6:167369504-167369554	SAEC	small airway:	n/a
29	chr6:167369491-167369541	BE2_C	brain:	n/a
30	chr6:167369491-167369541	HRCEpiC	kidney:	n/a
31	chr6:167369504-167369554	BE2_C	brain:	n/a
32	chr6:167369491-167369541	HIPEpiC	eye:	n/a
33	chr6:167369504-167369554	Caco-2	colon:	n/a
34	chr6:167369491-167369541	HepG2	liver:	n/a
35	chr6:167369491-167369541	HRPEpiC	eye:	n/a
36	chr6:167369504-167369554	HRE	kidney:	n/a
37	chr6:167369504-167369554	AG04450	lung:	fetal
38	chr6:167369491-167369541	ECC-1	luminal epithelium:	n/a
39	chr6:167369491-167369541	SAEC	small airway:	n/a
40	chr6:167369504-167369554	AG10803	skin:	n/a
41	chr6:167369491-167369541	HAEpiC	amniotic membrane:	n/a
42	chr6:167369491-167369541	Jurkat	blood:	n/a
43	chr6:167369504-167369554	HAEpiC	amniotic membrane:	n/a
44	chr6:167369491-167369541	AG04450	lung:	fetal
45	chr6:167369504-167369554	RPTEC	kidney:	n/a
46	chr6:167369504-167369554	PFSK-1	brain:	n/a
47	chr6:167369504-167369554	MCF-7	breast:	n/a
48	chr6:167369491-167369541	SK-N-SH	brain:	n/a
49	chr6:167369491-167369541	PrEC	prostate:	n/a
50	chr6:167369491-167369541	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:167364990..167367805-chr6:167369090..167372947,3	K562	blood:
2	chr6:167368436..167372370-chr6:167409956..167415121,7	MCF-7	breast:
3	chr6:167368335..167372073-chr6:167409735..167414257,6	K562	blood:
4	chr6:167274608..167276505-chr6:167368344..167370567,2	MCF-7	breast:
5	chr6:167368539..167373039-chr6:167409933..167412837,4	MCF-7	breast:

Variant related genes	Relation type
RNASET2	TF binding region
RNASET2	CpG island
ENSG00000213066	Chromatin interaction
ENSG00000026297	Chromatin interaction
ENSG00000265828	Chromatin interaction
ENSG00000071242	Chromatin interaction
ENSG00000272980	Chromatin interaction
ENSG00000227598	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9457250	1.00[AFR][1000 genomes];0.82[AMR][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	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr6:167367000-167369600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
2	chr6:167367200-167372000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr6:167368000-167370400	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr6:167368200-167370200	Active TSS	GM12878-XiMat	blood
5	chr6:167368200-167370800	Active TSS	Primary T cells from cord blood	blood
6	chr6:167368400-167370200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:167368400-167371000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:167368600-167369600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:167368600-167369600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:167368600-167369600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:167368600-167369600	Flanking Active TSS	Dnd41	blood
12	chr6:167368600-167370200	Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr6:167368600-167370400	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr6:167368600-167370400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr6:167368600-167370600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:167368600-167370600	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr6:167368600-167370600	Active TSS	Fetal Intestine Small	intestine
18	chr6:167368600-167370800	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr6:167368600-167370800	Active TSS	Small Intestine	intestine
20	chr6:167368600-167371000	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr6:167368600-167371200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:167368600-167371400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:167368600-167371400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:167368800-167369600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:167368800-167369600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:167368800-167369800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:167368800-167369800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr6:167368800-167370400	Active TSS	Fetal Kidney	kidney
29	chr6:167368800-167370600	Active TSS	Primary B cells from peripheral blood	blood
30	chr6:167368800-167370800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:167368800-167370800	Active TSS	Hela-S3	cervix
32	chr6:167368800-167371000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:167368800-167371000	Active TSS	Fetal Intestine Large	intestine
34	chr6:167368800-167371200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr6:167368800-167371200	Active TSS	HSMM	muscle
36	chr6:167369000-167369600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:167369000-167369600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:167369000-167369600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:167369000-167369600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:167369000-167369600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:167369000-167369600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:167369000-167369600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr6:167369000-167369600	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr6:167369000-167369600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr6:167369000-167369600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr6:167369000-167369600	Flanking Active TSS	HMEC	breast
47	chr6:167369000-167369600	Flanking Active TSS	NHEK	skin
48	chr6:167369000-167369800	Flanking Active TSS	Liver	Liver
49	chr6:167369000-167369800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr6:167369000-167370000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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