Variant report

Variant	rs16892376
Chromosome Location	chr6:161695354-161695355
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	GABPA	chr6:161694899-161695413	MCF-7	breast:	n/a	n/a
2	POLR2A	chr6:161694836-161695549	GM19193	blood:	n/a	n/a
3	RFX5	chr6:161694831-161695388	Hela-S3	cervix:	n/a	n/a
4	REST	chr6:161693461-161696061	H1-neurons	neurons:	n/a	chr6:161695558-161695572 chr6:161695548-161695561 chr6:161694602-161694615 chr6:161695553-161695571 chr6:161695552-161695572
5	STAT3	chr6:161694896-161695437	MCF10A-Er-Src	breast:	n/a	chr6:161695243-161695255 chr6:161695343-161695354 chr6:161695237-161695246
6	POLR2A	chr6:161694853-161695465	GM12892	blood:	n/a	n/a
7	MYC	chr6:161694181-161695418	MCF10A-Er-Src	breast:	n/a	chr6:161694609-161694619 chr6:161694521-161694530 chr6:161694808-161694818
8	POLR2A	chr6:161694663-161695416	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr6:161694293-161695943	NB4	blood:	n/a	chr6:161694609-161694619 chr6:161694521-161694530 chr6:161695769-161695778 chr6:161695770-161695777 chr6:161694808-161694818
10	RELA	chr6:161694908-161695402	GM19099	blood:	n/a	n/a
11	SRF	chr6:161694907-161695449	MCF-7	breast:	n/a	n/a
12	NR2F2	chr6:161694855-161695892	K562	blood:	n/a	n/a
13	TRIM28	chr6:161694857-161695517	K562	blood:	n/a	chr6:161695372-161695380
14	GABPA	chr6:161694895-161695467	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr6:161694844-161695748	GM12878	blood:	n/a	n/a
16	EP300	chr6:161694951-161695483	K562	blood:	n/a	chr6:161695128-161695142 chr6:161695236-161695245 chr6:161695178-161695187 chr6:161695338-161695352 chr6:161695174-161695188 chr6:161695239-161695252
17	UBTF	chr6:161695060-161695361	K562	blood:	n/a	n/a
18	MYC	chr6:161694189-161696197	K562	blood:	n/a	chr6:161694609-161694619 chr6:161694521-161694530 chr6:161695769-161695778 chr6:161695770-161695777 chr6:161694808-161694818
19	CHD1	chr6:161694930-161695515	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr6:161695047-161695505	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:161694865-161695368	HUVEC	blood vessel:	n/a	n/a
22	TAF1	chr6:161695105-161695376	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr6:161694843-161695443	HCT-116	colon:	n/a	n/a
24	POLR2A	chr6:161694846-161695502	K562	blood:	n/a	n/a
25	FOS	chr6:161695002-161696105	HUVEC	blood vessel:	n/a	chr6:161695237-161695246 chr6:161695236-161695246 chr6:161695236-161695246 chr6:161695176-161695185 chr6:161695235-161695246
26	MAFK	chr6:161694932-161695456	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr6:161694838-161695498	H1-hESC	embryonic stem cell:	n/a	chr6:161695163-161695174
28	POLR2A	chr6:161694846-161695419	GM12892	blood:	n/a	n/a
29	POLR2A	chr6:161694541-161695555	NB4	blood:	n/a	n/a
30	TBP	chr6:161694222-161695768	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:161694832-161695473	GM12892	blood:	n/a	n/a
32	NRF1	chr6:161695038-161695406	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:161694835-161695583	GM18505	blood:	n/a	n/a
34	POLR2A	chr6:161694838-161695449	K562	blood:	n/a	n/a
35	TAF1	chr6:161694846-161695678	H1-neurons	neurons:	n/a	n/a
36	RELA	chr6:161694977-161695820	GM10847	blood:	n/a	n/a
37	FOS	chr6:161694987-161695399	MCF10A-Er-Src	breast:	n/a	chr6:161695237-161695246 chr6:161695236-161695246 chr6:161695236-161695246 chr6:161695176-161695185 chr6:161695235-161695246
38	POLR2A	chr6:161694838-161695481	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr6:161694603-161695856	K562	blood:	n/a	n/a
40	POLR2A	chr6:161694897-161695457	HUVEC	blood vessel:	n/a	n/a
41	TAF1	chr6:161694858-161695654	SK-N-SH	brain:	n/a	n/a
42	TEAD4	chr6:161694819-161695471	K562	blood:	n/a	n/a
43	POLR2A	chr6:161694611-161695829	K562	blood:	n/a	n/a
44	POLR2A	chr6:161694832-161695540	GM15510	blood:	n/a	n/a
45	CHD2	chr6:161694885-161695574	H1-hESC	embryonic stem cell:	n/a	n/a
46	PML	chr6:161694911-161695418	GM12878	blood:	n/a	chr6:161695372-161695380
47	CBX3	chr6:161694816-161695916	K562	blood:	n/a	n/a
48	HEY1	chr6:161694868-161695435	K562	blood:	n/a	n/a
49	CREB1	chr6:161694786-161695539	K562	blood:	n/a	n/a
50	MYC	chr6:161694831-161696187	K562	blood:	n/a	chr6:161695769-161695778 chr6:161695770-161695777

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:161695321-161695371	K562	blood:	n/a
2	chr6:161695321-161695371	HL-60	blood:	n/a
3	chr6:161695321-161695371	A549	lung:	n/a
4	chr6:161695321-161695371	AG10803	skin:	n/a
5	chr6:161695321-161695371	HRPEpiC	eye:	n/a
6	chr6:161695321-161695371	AG04449	skin:	fetal
7	chr6:161695321-161695371	NHBE	bronchial:	n/a
8	chr6:161695321-161695371	PANC-1	pancreas:	n/a
9	chr6:161695321-161695371	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:161695321-161695371	GM12892	blood:	n/a
11	chr6:161695321-161695371	NHDF-neo	bronchial:	n/a
12	chr6:161695321-161695371	AG09309	skin:	n/a
13	chr6:161695321-161695371	HUVEC	blood vessel:	n/a
14	chr6:161695321-161695371	LNCaP	prostate:	n/a
15	chr6:161695321-161695371	RPTEC	kidney:	n/a
16	chr6:161695321-161695371	AoSMC	blood vessel:	n/a
17	chr6:161695321-161695371	IMR90	lung:	fetal
18	chr6:161695321-161695371	HAEpiC	amniotic membrane:	n/a
19	chr6:161695321-161695371	PFSK-1	brain:	n/a
20	chr6:161695321-161695371	NB4	blood:	n/a
21	chr6:161695321-161695371	Caco-2	colon:	n/a
22	chr6:161695321-161695371	GM06990	blood:	n/a
23	chr6:161695321-161695371	GM12891	blood:	n/a
24	chr6:161695321-161695371	SAEC	small airway:	n/a
25	chr6:161695321-161695371	HCF	heart:	n/a
26	chr6:161695321-161695371	SKMC	muscle:	n/a
27	chr6:161695321-161695371	SK-N-SH_RA	brain:	n/a
28	chr6:161695321-161695371	HEEpiC	esophagus:	n/a
29	chr6:161695321-161695371	AG09319	gingival:	n/a
30	chr6:161695321-161695371	BE2_C	brain:	n/a
31	chr6:161695321-161695371	BJ	skin:	n/a
32	chr6:161695321-161695371	HMEC	breast:	n/a
33	chr6:161695321-161695371	HCT-116	colon:	n/a
34	chr6:161695321-161695371	NT2-D1	testis:	n/a
35	chr6:161695321-161695371	T-47D	breast:	n/a
36	chr6:161695321-161695371	HNPCEpiC	eye:	n/a
37	chr6:161695321-161695371	SK-N-MC	brain:	n/a
38	chr6:161695321-161695371	H1-hESC	embryonic stem cell:	embryo
39	chr6:161695321-161695371	HIPEpiC	eye:	n/a
40	chr6:161695321-161695371	NH-A	brain:	n/a
41	chr6:161695321-161695371	AG04450	lung:	fetal
42	chr6:161695321-161695371	Hepatocyte	liver:	n/a
43	chr6:161695321-161695371	HCM	heart:	n/a
44	chr6:161695321-161695371	SK-N-SH	brain:	n/a
45	chr6:161695321-161695371	HRE	kidney:	n/a
46	chr6:161695321-161695371	ECC-1	luminal epithelium:	n/a
47	chr6:161695321-161695371	MCF10A-Er-Src	breast:	n/a
48	chr6:161695321-161695371	CMK	blood:	n/a
49	chr6:161695321-161695371	HCPEpiC	choroid plexus:	n/a
50	chr6:161695321-161695371	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:161695256..161697012-chr6:161781193..161782822,2	K562	blood:
2	chr6:161695125..161696758-chr6:161719805..161722381,2	K562	blood:
3	chr6:161695295..161697875-chr6:161769720..161771302,2	K562	blood:
4	chr6:161626044..161628173-chr6:161695220..161697294,2	K562	blood:
5	chr6:161663033..161665042-chr6:161695246..161697191,2	K562	blood:
6	chr6:161411809..161413437-chr6:161693885..161696604,2	K562	blood:

Variant related genes	Relation type
AGPAT4	TF binding region
AGPAT4	CpG island
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34784502	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757033	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757038	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798950	0.85[ASN][1000 genomes]
rs3798953	0.83[ASN][1000 genomes]
rs3798956	0.90[ASN][1000 genomes]
rs55977455	0.85[ASN][1000 genomes]
rs62437578	0.85[ASN][1000 genomes]
rs62437580	0.90[ASN][1000 genomes]
rs62437582	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6914451	0.92[ASN][1000 genomes]
rs9458175	0.87[ASN][1000 genomes]
rs9458179	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS 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	3 gene(s)	inside rSNPs	diseases
8	nsv886818	chr6:161629323-161723705	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv533149	chr6:161653240-161769727	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv869611	chr6:161690974-161817564	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161692000-161695600	Active TSS	Brain Cingulate Gyrus	brain
2	chr6:161692200-161695600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:161692800-161695400	Active TSS	Brain Angular Gyrus	brain
4	chr6:161692800-161695400	Active TSS	Fetal Brain Male	brain
5	chr6:161693000-161695400	Active TSS	Brain Anterior Caudate	brain
6	chr6:161693000-161695600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr6:161693200-161695400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:161693200-161695400	Active TSS	Brain Hippocampus Middle	brain
9	chr6:161693200-161696000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:161693400-161695400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:161693400-161695400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:161693400-161695400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:161693400-161695400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:161693400-161695400	Active TSS	Brain Germinal Matrix	brain
15	chr6:161693400-161695400	Active TSS	NH-A	brain
16	chr6:161693400-161695600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:161693400-161695600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:161693400-161695600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:161693400-161695600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:161693400-161695800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr6:161693400-161696000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:161693600-161695400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:161693600-161695400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:161693600-161695400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:161693600-161695400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:161693600-161695400	Active TSS	NHLF	lung
27	chr6:161693600-161695600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:161693600-161695600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:161693600-161695600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:161693600-161695600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:161693600-161695600	Active TSS	Fetal Kidney	kidney
32	chr6:161693600-161695800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:161693600-161695800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:161693600-161695800	Active TSS	Fetal Brain Female	brain
35	chr6:161693600-161696000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:161693800-161695400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr6:161693800-161695400	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr6:161693800-161695400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:161693800-161695400	Active TSS	Fetal Intestine Small	intestine
40	chr6:161693800-161695400	Active TSS	Rectal Smooth Muscle	rectum
41	chr6:161693800-161695400	Active TSS	HSMM	muscle
42	chr6:161693800-161695600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:161693800-161695600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:161693800-161695600	Active TSS	Placenta Amnion	Placenta Amnion
45	chr6:161693800-161695800	Active TSS	Colonic Mucosa	Colon
46	chr6:161693800-161695800	Active TSS	Fetal Muscle Trunk	muscle
47	chr6:161693800-161695800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:161693800-161695800	Active TSS	Right Atrium	heart
49	chr6:161694000-161695400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:161694000-161695400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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