Variant report

Variant	rs11753446
Chromosome Location	chr6:161417431-161417432
allele	A/C
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	ZNF263	chr6:161417052-161417566	HEK293-T-REx	kidney:	n/a	n/a
2	CTCF	chr6:161417340-161417490	GM12872	blood:	n/a	n/a
3	POLR2A	chr6:161417060-161417495	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:161417386-161417711	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:161417330-161417810	HUVEC	blood vessel:	n/a	n/a
6	FOS	chr6:161417268-161417804	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr6:161417411-161417668	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr6:161417387-161417706	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr6:161417341-161417780	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr6:161417372-161418029	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL1	chr6:161417185-161417884	HCT-116	colon:	n/a	n/a
12	STAT3	chr6:161417408-161417670	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr6:161417320-161417731	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:161417061-161417556	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:161417175..161419433-chr6:161431394..161434552,3	K562	blood:
2	chr6:161412541..161414209-chr6:161416137..161417801,2	MCF-7	breast:
3	chr6:161410042..161415394-chr6:161415769..161420242,7	MCF-7	breast:
4	chr6:161416864..161418683-chr6:161425882..161428622,2	K562	blood:

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1001756	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11751634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751843	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11752188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11755244	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11757223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757309	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11757882	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758794	0.83[EUR][1000 genomes]
rs11759000	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11759408	0.87[AMR][1000 genomes]
rs11962121	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464781	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1562025	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35142900	1.00[ASN][1000 genomes]
rs3778218	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3798916	1.00[AMR][1000 genomes]
rs41268545	0.87[AMR][1000 genomes]
rs55799452	0.87[AMR][1000 genomes]
rs57922639	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58040353	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59129068	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59318837	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60649875	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907956	0.88[AMR][1000 genomes]
rs6922534	0.94[AMR][1000 genomes]
rs719474	0.83[EUR][1000 genomes]
rs7738423	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458121	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161411800-161417800	Active TSS	GM12878-XiMat	blood
2	chr6:161413800-161432000	Weak transcription	Aorta	Aorta
3	chr6:161413800-161433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:161414000-161422400	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:161414000-161430800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:161414000-161432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:161414200-161417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:161414200-161417800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:161414200-161418000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:161414200-161418000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:161414200-161419000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:161414200-161420400	Weak transcription	Thymus	Thymus
13	chr6:161414200-161421400	Weak transcription	Brain Anterior Caudate	brain
14	chr6:161414200-161422400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:161414200-161422400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:161414200-161422400	Weak transcription	A549	lung
17	chr6:161414200-161422600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:161414200-161422600	Weak transcription	Fetal Kidney	kidney
19	chr6:161414200-161422600	Weak transcription	Stomach Mucosa	stomach
20	chr6:161414200-161431600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:161414200-161431600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:161414200-161458200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:161414400-161422400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:161414400-161422400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:161414600-161422600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:161414600-161422800	Weak transcription	Fetal Heart	heart
28	chr6:161414600-161432800	Weak transcription	Fetal Stomach	stomach
29	chr6:161414600-161442600	Weak transcription	Primary B cells from cord blood	blood
30	chr6:161414600-161457400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:161414800-161417600	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:161414800-161419000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:161414800-161419000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:161414800-161419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:161414800-161419800	Weak transcription	Fetal Lung	lung
36	chr6:161414800-161420000	Weak transcription	Primary T cells from cord blood	blood
37	chr6:161414800-161420600	Weak transcription	Liver	Liver
38	chr6:161414800-161422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:161414800-161422600	Weak transcription	Hela-S3	cervix
40	chr6:161415000-161417800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:161415400-161418200	Enhancers	Ovary	ovary
42	chr6:161415400-161422400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:161415600-161422600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:161415600-161427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:161415600-161450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:161416000-161418000	Enhancers	Dnd41	blood
47	chr6:161416000-161421200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:161416200-161417600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:161416200-161418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr6:161416200-161418000	Enhancers	HMEC	breast

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