Variant report

Variant	rs565909602
Chromosome Location	chr6:161412494-161412495
allele	C/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	POLR2A	chr6:161412417-161413123	A549	lung:	n/a	n/a
2	TCF7L2	chr6:161412373-161413442	HCT-116	colon:	n/a	n/a
3	POLR2A	chr6:161412117-161414075	K562	blood:	n/a	n/a
4	TAF1	chr6:161412489-161412982	PFSK-1	brain:	n/a	n/a
5	YY1	chr6:161412216-161413298	SK-N-SH_RA	brain:	n/a	chr6:161412862-161412871 chr6:161412827-161412836 chr6:161412815-161412834 chr6:161412814-161412834 chr6:161412810-161412832 chr6:161412823-161412831 chr6:161413244-161413255 chr6:161412934-161412943 chr6:161412821-161412829 chr6:161412822-161412832 chr6:161412820-161412832
6	MAX	chr6:161412165-161414129	NB4	blood:	n/a	chr6:161412941-161412950
7	MYC	chr6:161411801-161414241	K562	blood:	n/a	chr6:161412941-161412950
8	YY1	chr6:161412334-161413475	ECC-1	luminal epithelium:	n/a	chr6:161412862-161412871 chr6:161412827-161412836 chr6:161412815-161412834 chr6:161413424-161413435 chr6:161412814-161412834 chr6:161412810-161412832 chr6:161412823-161412831 chr6:161413244-161413255 chr6:161412934-161412943 chr6:161412821-161412829 chr6:161412822-161412832 chr6:161412820-161412832
9	CHD2	chr6:161412310-161412578	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr6:161412320-161412924	H1-hESC	embryonic stem cell:	n/a	chr6:161412491-161412500
11	POLR2A	chr6:161412207-161413801	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr6:161412171-161413856	GM12892	blood:	n/a	n/a
13	POLR2A	chr6:161412428-161413037	HepG2	liver:	n/a	n/a
14	MXI1	chr6:161412255-161414082	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:161412385-161413001	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr6:161412234-161413563	HepG2	liver:	n/a	chr6:161412862-161412871 chr6:161412827-161412836 chr6:161412815-161412834 chr6:161413424-161413435 chr6:161412814-161412834 chr6:161412810-161412832 chr6:161412823-161412831 chr6:161413244-161413255 chr6:161412934-161412943 chr6:161412821-161412829 chr6:161412822-161412832 chr6:161412820-161412832
17	POLR2A	chr6:161412225-161413657	Gliobla	brain:	n/a	n/a
18	POLR2A	chr6:161412415-161413298	A549	lung:	n/a	n/a
19	CREB1	chr6:161412151-161413649	HepG2	liver:	n/a	n/a
20	CTCF	chr6:161412346-161412902	K562	blood:	n/a	chr6:161412601-161412614 chr6:161412604-161412617
21	POLR2A	chr6:161412220-161413678	H1-neurons	neurons:	n/a	n/a
22	REST	chr6:161412272-161413006	HepG2	liver:	n/a	chr6:161412576-161412589
23	POLR2A	chr6:161412277-161413564	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr6:161412369-161413166	H1-hESC	embryonic stem cell:	n/a	chr6:161412941-161412950
25	HEY1	chr6:161412332-161413005	HepG2	liver:	n/a	n/a
26	HDAC2	chr6:161412380-161412979	HepG2	liver:	n/a	n/a
27	MYC	chr6:161412441-161412737	MCF-7	breast:	n/a	n/a
28	TAF1	chr6:161412300-161413561	H1-hESC	embryonic stem cell:	n/a	n/a
29	GTF2F1	chr6:161412363-161412948	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:161412201-161413756	GM12892	blood:	n/a	n/a
31	ELF1	chr6:161412252-161412914	K562	blood:	n/a	chr6:161412862-161412871
32	RCOR1	chr6:161412197-161413493	HepG2	liver:	n/a	n/a
33	TAF1	chr6:161412199-161413601	K562	blood:	n/a	n/a
34	MAX	chr6:161412279-161413808	ECC-1	luminal epithelium:	n/a	chr6:161412941-161412950
35	UBTF	chr6:161412133-161414134	K562	blood:	n/a	n/a
36	POLR2A	chr6:161412119-161413702	U87	brain:	n/a	n/a
37	EP300	chr6:161412322-161413482	ECC-1	luminal epithelium:	n/a	chr6:161413396-161413412
38	ARID3A	chr6:161412215-161412877	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:161412189-161414076	K562	blood:	n/a	n/a
40	RUNX3	chr6:161412244-161412994	GM12878	blood:	n/a	n/a
41	ZMIZ1	chr6:161412256-161414163	K562	blood:	n/a	n/a
42	POLR2A	chr6:161412326-161413039	H1-hESC	embryonic stem cell:	n/a	n/a
43	ETS1	chr6:161412308-161413388	K562	blood:	n/a	chr6:161412860-161412871
44	POLR2A	chr6:161412227-161413036	U87	brain:	n/a	n/a
45	MTA3	chr6:161412116-161413063	GM12878	blood:	n/a	n/a
46	REST	chr6:161412064-161413919	H1-neurons	neurons:	n/a	chr6:161412576-161412589
47	POLR2A	chr6:161412205-161414049	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr6:161412300-161413553	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:161412190-161414012	PBDE	blood:	n/a	n/a
50	POLR2A	chr6:161412306-161413504	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:158243442..158245618-chr6:161412032..161413556,2	K562	blood:
2	chr6:161411531..161413327-chr6:161653025..161655728,2	K562	blood:
3	chr6:161409929..161412719-chr6:161465318..161467396,2	K562	blood:
4	chr6:161411809..161413437-chr6:161693885..161696604,2	K562	blood:
5	chr6:161411372..161413087-chr6:161442452..161444110,2	K562	blood:
6	chr6:161349966..161354183-chr6:161410810..161413824,4	MCF-7	breast:
7	chr6:161300742..161302528-chr6:161411919..161413550,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGPAT4-1	chr6:161411382-161412758	NONHSAT115928
2	lnc-AGPAT4-1	chr6:161411350-161413374	ENSG00000272841.1

Variant related genes	Relation type
MAP3K4	TF binding region
ENSG00000231863	Chromatin interaction
ENSG00000224371	Chromatin interaction
ENSG00000085511	Chromatin interaction
ENSG00000130340	Chromatin interaction
ENSG00000026652	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3357609	chr6:161411812-161414260	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3427182	chr6:161411987-161414535	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr6:161411200-161414000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:161411200-161414600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:161411600-161412600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr6:161411600-161414000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:161411600-161414200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:161411600-161414400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:161411800-161412600	Active TSS	Fetal Brain Male	brain
8	chr6:161411800-161413400	Active TSS	Fetal Lung	lung
9	chr6:161411800-161414000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:161411800-161414000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:161411800-161414000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:161411800-161414000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:161411800-161414000	Active TSS	Brain Cingulate Gyrus	brain
14	chr6:161411800-161414000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:161411800-161414000	Active TSS	Brain Substantia Nigra	brain
16	chr6:161411800-161414000	Active TSS	Fetal Intestine Large	intestine
17	chr6:161411800-161414000	Active TSS	Fetal Muscle Leg	muscle
18	chr6:161411800-161414000	Active TSS	K562	blood
19	chr6:161411800-161414000	Active TSS	NHLF	lung
20	chr6:161411800-161414200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:161411800-161414200	Active TSS	Brain Angular Gyrus	brain
22	chr6:161411800-161414200	Active TSS	Fetal Kidney	kidney
23	chr6:161411800-161414200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:161411800-161414200	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:161411800-161414200	Active TSS	HSMMtube	muscle
26	chr6:161411800-161414400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr6:161411800-161414400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:161411800-161414400	Active TSS	HMEC	breast
29	chr6:161411800-161414400	Active TSS	NH-A	brain
30	chr6:161411800-161417800	Active TSS	GM12878-XiMat	blood
31	chr6:161412000-161412600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr6:161412000-161412600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr6:161412000-161413400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:161412000-161413400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:161412000-161413400	Active TSS	Duodenum Mucosa	Duodenum
36	chr6:161412000-161413400	Active TSS	Placenta	Placenta
37	chr6:161412000-161413600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:161412000-161413600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:161412000-161413800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:161412000-161413800	Active TSS	Aorta	Aorta
41	chr6:161412000-161413800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr6:161412000-161414000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr6:161412000-161414000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:161412000-161414000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:161412000-161414000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:161412000-161414000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:161412000-161414000	Active TSS	Brain Anterior Caudate	brain
48	chr6:161412000-161414000	Active TSS	Brain Hippocampus Middle	brain
49	chr6:161412000-161414000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:161412000-161414000	Active TSS	Colon Smooth Muscle	Colon

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