Variant report

Variant	rs6924272
Chromosome Location	chr6:167555488-167555489
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	MXI1	chr6:167555416-167556197	SK-N-SH	brain:	n/a	n/a
2	SMC3	chr6:167555216-167556075	GM12878	blood:	n/a	chr6:167555841-167555855
3	CTCF	chr6:167555360-167555510	SAEC	small airway:	n/a	n/a
4	RAD21	chr6:167555442-167556163	HepG2	liver:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
5	CTCF	chr6:167555469-167556105	A549	lung:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
6	CTCF	chr6:167555452-167556254	SK-N-SH	brain:	n/a	chr6:167555842-167555852 chr6:167555841-167555854 chr6:167555839-167555857
7	SMC3	chr6:167554866-167556239	SK-N-SH	brain:	n/a	chr6:167555841-167555855
8	RAD21	chr6:167555411-167556198	HCT-116	colon:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555841-167555851
9	CTCF	chr6:167555340-167555490	GM12867	blood:	n/a	n/a
10	RAD21	chr6:167554119-167556293	SK-N-SH	brain:	n/a	chr6:167555843-167555852 chr6:167555837-167555856 chr6:167555839-167555851 chr6:167555840-167555853 chr6:167555384-167555394 chr6:167555841-167555851

No.	Distal block	Cell Line	Cell type
1	chr6:167200031..167200812-chr6:167555407..167555996,2	K562	blood:
2	chr6:167410903..167412089-chr6:167555232..167556268,5	MCF-7	breast:
3	chr6:167459004..167459905-chr6:167555024..167555917,3	MCF-7	breast:
4	chr6:167411045..167411873-chr6:167555413..167555930,2	MCF-7	breast:
5	chr6:167186547..167188661-chr6:167553295..167555799,2	K562	blood:
6	chr6:167188755..167189454-chr6:167555413..167556221,2	MCF-7	breast:
7	chr6:167185783..167186302-chr6:167555369..167556350,2	K562	blood:
8	chr6:167199917..167200852-chr6:167555354..167555927,2	MCF-7	breast:
9	chr6:167188403..167189352-chr6:167555280..167555897,4	K562	blood:
10	chr6:167533318..167534107-chr6:167555281..167555885,2	MCF-7	breast:

Variant related genes	Relation type
TCP10L2	TF binding region
ENSG00000265828	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10452579	1.00[EUR][1000 genomes]
rs10946217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3093004	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41331945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41418545	1.00[EUR][1000 genomes]
rs41501249	1.00[EUR][1000 genomes]
rs41501544	1.00[EUR][1000 genomes]
rs57628571	1.00[EUR][1000 genomes]
rs73259230	1.00[EUR][1000 genomes]
rs73259238	1.00[EUR][1000 genomes]
rs73263303	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1018193	chr6:167491589-167797294	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv538544	chr6:167491589-167797294	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv469673	chr6:167500376-167658532	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv482439	chr6:167500376-167658532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2758094	chr6:167501204-167845935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759492	chr6:167501204-168176733	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv482873	chr6:167521620-167679133	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1024657	chr6:167526198-167555488	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv7999	chr6:167552715-167558308	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167534000-167573400	Weak transcription	Right Atrium	heart
2	chr6:167543400-167565000	Weak transcription	Spleen	Spleen
3	chr6:167550600-167560400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:167551000-167555600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:167551200-167555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:167551200-167559600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:167551600-167555600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:167552600-167556200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:167552800-167560800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:167553000-167556000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:167553000-167558800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:167553800-167555600	Enhancers	Stomach Mucosa	stomach
13	chr6:167553800-167555800	Enhancers	GM12878-XiMat	blood
14	chr6:167554000-167555600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:167554000-167555600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:167554000-167555800	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:167554000-167555800	Enhancers	Fetal Intestine Large	intestine
18	chr6:167554000-167555800	Enhancers	Fetal Intestine Small	intestine
19	chr6:167554000-167555800	Enhancers	Fetal Muscle Leg	muscle
20	chr6:167554000-167556600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:167554200-167555800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:167554200-167555800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:167554200-167555800	Enhancers	Fetal Stomach	stomach
24	chr6:167554200-167555800	Flanking Active TSS	HepG2	liver
25	chr6:167554400-167556200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:167554400-167556200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:167554600-167556000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr6:167554600-167556000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:167554800-167556000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr6:167554800-167559200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:167555000-167555600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:167555000-167555800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr6:167555000-167556000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:167555000-167556000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:167555000-167558000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:167555200-167556400	Enhancers	Primary B cells from cord blood	blood
37	chr6:167555400-167555600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:167555400-167556000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr6:167555400-167556000	Enhancers	Colon Smooth Muscle	Colon
40	chr6:167555400-167556000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr6:167555400-167556800	Enhancers	Primary B cells from peripheral blood	blood
42	chr6:167555400-167558200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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