Variant report

Variant	rs61906861
Chromosome Location	chr11:107730204-107730205
allele	C/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	ZNF384	chr11:107729482-107731027	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:107728765-107730705	GM18951	blood:	n/a	n/a
3	POLR2A	chr11:107728320-107731018	GM12878	blood:	n/a	n/a
4	KAP1	chr11:107729044-107730757	HEK293	kidney:	n/a	n/a
5	RAD21	chr11:107728915-107730266	H1-hESC	embryonic stem cell:	n/a	chr11:107728996-107729010
6	MAX	chr11:107730188-107730644	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3A	chr11:107728687-107730673	H1-hESC	embryonic stem cell:	n/a	chr11:107729330-107729341
8	POLR2A	chr11:107728998-107730209	PFSK-1	brain:	n/a	n/a
9	TCF12	chr11:107730158-107730707	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr11:107730180-107730330	SAEC	small airway:	n/a	n/a
11	NR2F2	chr11:107728681-107730219	K562	blood:	n/a	n/a
12	CTCF	chr11:107730200-107730350	HEK293	kidney:	n/a	n/a
13	BHLHE40	chr11:107729118-107731054	GM12878	blood:	n/a	chr11:107729324-107729340
14	MAX	chr11:107730144-107730803	A549	lung:	n/a	n/a
15	POLR2A	chr11:107728442-107731008	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:107728482-107730760	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:107728740-107730534	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:107728656-107730695	GM15510	blood:	n/a	n/a
19	CTCF	chr11:107730200-107730350	NHEK	skin:	n/a	n/a
20	POLR2A	chr11:107728796-107730714	GM19193	blood:	n/a	n/a
21	CTCF	chr11:107730176-107730365	K562	blood:	n/a	n/a
22	TBP	chr11:107729475-107730585	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:107728507-107730902	GM12878	blood:	n/a	n/a
24	MAX	chr11:107730154-107730795	ECC-1	luminal epithelium:	n/a	n/a
25	MTA3	chr11:107730145-107731069	GM12878	blood:	n/a	n/a
26	MAZ	chr11:107728400-107730739	IMR90	lung:	n/a	chr11:107729315-107729322 chr11:107729341-107729350 chr11:107729314-107729323
27	ZNF384	chr11:107729367-107730856	K562	blood:	n/a	n/a
28	GTF3C2	chr11:107729834-107730531	Hela-S3	cervix:	n/a	n/a
29	MYC	chr11:107728729-107730674	MCF10A-Er-Src	breast:	n/a	chr11:107729315-107729322 chr11:107729341-107729350 chr11:107729314-107729323
30	NFIC	chr11:107729139-107730828	ECC-1	luminal epithelium:	n/a	n/a
31	MYC	chr11:107728817-107730491	K562	blood:	n/a	chr11:107729315-107729322 chr11:107729341-107729350 chr11:107729314-107729323
32	CTCF	chr11:107730103-107730541	K562	blood:	n/a	n/a
33	POLR2A	chr11:107729049-107730307	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr11:107730140-107730290	HMEC	breast:	n/a	n/a
35	POLR2A	chr11:107729099-107730228	SK-N-MC	brain:	n/a	n/a
36	MXI1	chr11:107728067-107730995	SK-N-SH	brain:	n/a	chr11:107729017-107729026
37	POLR2A	chr11:107728688-107730746	GM12892	blood:	n/a	n/a
38	MAX	chr11:107730158-107730647	A549	lung:	n/a	n/a
39	CTCF	chr11:107728743-107730444	GM12878	blood:	n/a	n/a
40	TCF12	chr11:107729194-107730281	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr11:107730104-107730434	K562	blood:	n/a	n/a
42	POLR2A	chr11:107728928-107730226	K562	blood:	n/a	n/a
43	MYC	chr11:107729190-107730596	MCF10A-Er-Src	breast:	n/a	chr11:107729315-107729322 chr11:107729341-107729350 chr11:107729314-107729323
44	POLR2A	chr11:107728701-107730713	PANC-1	pancreas:	n/a	n/a
45	SMC3	chr11:107728513-107730707	Hela-S3	cervix:	n/a	n/a
46	HA-E2F1	chr11:107728662-107730616	MCF-7	breast:	n/a	chr11:107729657-107729666 chr11:107728990-107728999 chr11:107728993-107729003 chr11:107729334-107729344
47	CHD1	chr11:107729046-107730650	GM12878	blood:	n/a	n/a
48	CTCF	chr11:107730140-107730290	WERI-Rb-1	eye:	n/a	n/a
49	MAX	chr11:107728176-107730917	HCT-116	colon:	n/a	chr11:107729315-107729322 chr11:107729341-107729350 chr11:107729314-107729323
50	NFIC	chr11:107730150-107730807	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107728941..107731899-chr11:107878493..107880123,2	K562	blood:
2	chr11:107459711..107461881-chr11:107729122..107732071,2	K562	blood:

Variant related genes	Relation type
SLC35F2	TF binding region
ENSG00000166266	Chromatin interaction
ENSG00000110675	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10431032	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10789638	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10890767	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10890768	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10890769	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10890770	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11212405	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11212408	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11212410	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11212411	0.82[ASN][1000 genomes]
rs11603925	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11603959	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11607450	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12278174	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12417231	0.82[ASN][1000 genomes]
rs12418609	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3741065	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4587695	0.88[ASN][1000 genomes]
rs4753819	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4753821	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4754264	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4754265	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4754267	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4754268	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55669117	0.82[ASN][1000 genomes]
rs56139321	0.82[ASN][1000 genomes]
rs56218864	0.82[ASN][1000 genomes]
rs58034440	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7102437	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7104117	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7109214	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7121733	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7949443	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs924859	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs924860	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1045388	chr11:107686808-107733498	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1043139	chr11:107725297-107869216	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv898381	chr11:107729106-107847983	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr11:107727600-107730400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:107727600-107730400	Active TSS	NHEK	skin
3	chr11:107727600-107730800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:107727800-107730600	Active TSS	A549	lung
5	chr11:107727800-107730800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:107727800-107730800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:107727800-107731000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr11:107727800-107731200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:107728000-107730400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr11:107728000-107730400	Active TSS	GM12878-XiMat	blood
11	chr11:107728000-107730800	Active TSS	Esophagus	oesophagus
12	chr11:107728200-107730400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:107728400-107730600	Active TSS	Colon Smooth Muscle	Colon
14	chr11:107728400-107730600	Active TSS	Gastric	stomach
15	chr11:107728400-107730800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:107728400-107730800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:107728400-107730800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr11:107728400-107730800	Active TSS	Duodenum Mucosa	Duodenum
19	chr11:107728400-107730800	Active TSS	Ovary	ovary
20	chr11:107728400-107731000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:107728600-107730400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:107728600-107730400	Active TSS	HUVEC	blood vessel
23	chr11:107728600-107730400	Active TSS	K562	blood
24	chr11:107728600-107730600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:107728600-107730600	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:107728600-107730600	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:107728600-107730600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr11:107728600-107730800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:107728600-107730800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr11:107728600-107730800	Active TSS	Fetal Kidney	kidney
31	chr11:107728600-107730800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr11:107728600-107730800	Active TSS	Right Ventricle	heart
33	chr11:107728600-107730800	Active TSS	Hela-S3	cervix
34	chr11:107728600-107730800	Active TSS	HMEC	breast
35	chr11:107728600-107730800	Active TSS	HSMM	muscle
36	chr11:107728600-107731000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:107728600-107731000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr11:107728600-107731000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:107728600-107731000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr11:107728800-107730400	Active TSS	Brain Substantia Nigra	brain
41	chr11:107728800-107730400	Active TSS	Lung	lung
42	chr11:107728800-107730400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr11:107728800-107730600	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:107728800-107730600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:107728800-107730600	Active TSS	Psoas Muscle	Psoas
46	chr11:107728800-107730600	Active TSS	Osteobl	bone
47	chr11:107728800-107730800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:107728800-107730800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr11:107728800-107730800	Active TSS	Aorta	Aorta
50	chr11:107728800-107730800	Active TSS	Brain Angular Gyrus	brain

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