Variant report

Variant	rs435206
Chromosome Location	chr11:16903178-16903179
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	CTCF	chr11:16902936-16903331	K562	blood:	n/a	n/a
2	RAD21	chr11:16902939-16903196	K562	blood:	n/a	n/a
3	FOS	chr11:16902901-16903248	MCF10A-Er-Src	breast:	n/a	chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903075-16903083
4	CTCF	chr11:16903080-16903230	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr11:16903080-16903230	GM12872	blood:	n/a	n/a
6	STAT3	chr11:16902742-16903181	MCF10A-Er-Src	breast:	n/a	chr11:16902796-16902816 chr11:16903053-16903061
7	CTCF	chr11:16903120-16903270	HCM	heart:	n/a	n/a
8	RAD21	chr11:16902982-16903185	K562	blood:	n/a	n/a
9	CTCF	chr11:16903060-16903210	GM12871	blood:	n/a	n/a
10	NFIC	chr11:16902801-16903268	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr11:16903060-16903210	GM12865	blood:	n/a	n/a
12	RAD21	chr11:16902839-16903368	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr11:16902945-16903225	NHEK	skin:	n/a	n/a
14	SMC3	chr11:16902942-16903267	K562	blood:	n/a	n/a
15	FOS	chr11:16902876-16903252	MCF10A-Er-Src	breast:	n/a	chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903075-16903083
16	CTCF	chr11:16903040-16903190	HCM	heart:	n/a	n/a
17	MYC	chr11:16902946-16903213	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr11:16902982-16903185	GM12892	blood:	n/a	n/a
19	STAT3	chr11:16902878-16903188	MCF10A-Er-Src	breast:	n/a	chr11:16903053-16903061
20	FOS	chr11:16902908-16903243	MCF10A-Er-Src	breast:	n/a	chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903075-16903083
21	CTCF	chr11:16902972-16903224	K562	blood:	n/a	n/a
22	RAD21	chr11:16902961-16903190	GM12878	blood:	n/a	n/a
23	CTCF	chr11:16903060-16903210	AG09309	skin:	n/a	n/a
24	CTCF	chr11:16902994-16903192	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:16902900-16903190	GM12871	blood:	n/a	n/a
26	RAD21	chr11:16902919-16903262	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr11:16902940-16903185	IMR90	lung:	n/a	n/a
28	CTCF	chr11:16903060-16903210	HVMF	connective:	n/a	n/a
29	RAD21	chr11:16902813-16903324	H1-hESC	embryonic stem cell:	n/a	chr11:16902814-16902824
30	CTCF	chr11:16903040-16903190	HCFaa	heart:	n/a	n/a
31	CTCF	chr11:16902988-16903181	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:16902953-16903314	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:16903001-16903193	Pancreas_OC	pancreas:	n/a	n/a
34	MYC	chr11:16902971-16903209	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:16902863-16903253	MCF10A-Er-Src	breast:	n/a	chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903074-16903084 chr11:16903075-16903083
36	ZKSCAN1	chr11:16903173-16903235	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr11:16902943-16903239	K562	blood:	n/a	n/a
38	CTCF	chr11:16902923-16903260	K562	blood:	n/a	n/a
39	RAD21	chr11:16902897-16903236	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:16903080-16903230	GM12867	blood:	n/a	n/a
41	RAD21	chr11:16902998-16903230	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:16903135-16903252	MCF10A-Er-Src	breast:	n/a	n/a
43	CTCF	chr11:16902927-16903248	GM12878	blood:	n/a	n/a
44	CTCF	chr11:16903040-16903190	AoAF	blood vessel:	n/a	n/a
45	RAD21	chr11:16903055-16903249	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr11:16902983-16903203	Fibrobl	skin:	n/a	n/a
47	CTCF	chr11:16903100-16903250	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr11:16903100-16903250	GM12864	blood:	n/a	n/a
49	RAD21	chr11:16902809-16903339	ECC-1	luminal epithelium:	n/a	chr11:16902814-16902824
50	CTCF	chr11:16903080-16903230	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16902656..16905634-chr11:17097144..17099414,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHA7	TF binding region
ENSG00000201403	Chromatin interaction
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10741713	0.93[JPT][hapmap]
rs10766360	0.93[JPT][hapmap]
rs11024074	0.82[JPT][hapmap]
rs11024087	0.92[JPT][hapmap]
rs12418111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1638456	0.93[ASN][1000 genomes]
rs1638457	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16933675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16933680	0.91[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.87[AFR][1000 genomes]
rs16933682	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes]
rs16933683	0.94[JPT][hapmap]
rs16933684	0.93[JPT][hapmap]
rs177544	0.92[CEU][hapmap]
rs177546	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs177551	0.83[ASN][1000 genomes]
rs177554	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs177561	0.94[JPT][hapmap]
rs177562	0.93[JPT][hapmap]
rs177563	0.93[JPT][hapmap]
rs2057788	0.94[JPT][hapmap]
rs2190752	0.93[JPT][hapmap]
rs2883150	0.93[JPT][hapmap]
rs35109048	0.87[AFR][1000 genomes]
rs367373	0.80[ASN][1000 genomes]
rs369457	0.93[JPT][hapmap]
rs370053	0.82[AMR][1000 genomes]
rs370671	0.82[AMR][1000 genomes]
rs371905	0.93[JPT][hapmap]
rs373266	0.80[AMR][1000 genomes]
rs378863	0.95[ASN][1000 genomes]
rs381815	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs382280	0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs385627	0.82[AMR][1000 genomes]
rs385943	0.80[AMR][1000 genomes]
rs387849	0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs388968	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs389967	0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs390974	0.93[JPT][hapmap]
rs391332	0.92[ASN][1000 genomes]
rs392706	0.80[AMR][1000 genomes]
rs393633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs397343	0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs397373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs398216	0.80[AMR][1000 genomes]
rs400085	0.93[JPT][hapmap];0.82[AMR][1000 genomes]
rs400349	0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs400458	0.94[JPT][hapmap]
rs401820	0.93[JPT][hapmap]
rs402982	0.88[JPT][hapmap]
rs406109	0.80[AMR][1000 genomes]
rs406890	0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs406937	0.82[AMR][1000 genomes]
rs407354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs407932	0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs409354	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs413858	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs414219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs415265	0.80[AMR][1000 genomes]
rs416258	0.88[JPT][hapmap]
rs417406	0.86[JPT][hapmap];0.82[AMR][1000 genomes]
rs420975	0.93[JPT][hapmap]
rs422272	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs425325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs425745	0.85[JPT][hapmap]
rs426085	0.80[AMR][1000 genomes]
rs427429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs428840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs428933	0.94[JPT][hapmap]
rs429368	0.82[AMR][1000 genomes]
rs430211	0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs431208	0.94[JPT][hapmap]
rs432046	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs433212	0.94[JPT][hapmap]
rs433225	0.93[JPT][hapmap]
rs434761	0.94[JPT][hapmap]
rs434899	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs440212	0.93[JPT][hapmap]
rs443327	0.82[AMR][1000 genomes]
rs445146	0.93[JPT][hapmap];0.80[AMR][1000 genomes]
rs445205	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs445431	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs446612	0.82[AMR][1000 genomes]
rs448671	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs450828	0.93[JPT][hapmap];0.80[AMR][1000 genomes]
rs452414	0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs452745	0.93[JPT][hapmap]
rs453015	0.80[AMR][1000 genomes]
rs454538	0.80[AMR][1000 genomes]
rs454869	0.94[JPT][hapmap]
rs4756875	0.93[JPT][hapmap]
rs4756876	0.93[JPT][hapmap]
rs4757449	0.93[JPT][hapmap]
rs4757451	0.93[JPT][hapmap]
rs4757452	0.92[JPT][hapmap]
rs4757454	0.93[JPT][hapmap]
rs4757456	0.93[JPT][hapmap]
rs4757457	0.93[JPT][hapmap]
rs58542530	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59828007	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61882035	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882036	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882037	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61882038	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6486326	0.94[JPT][hapmap]
rs7111470	0.94[JPT][hapmap]
rs7396552	0.86[JPT][hapmap]
rs7481080	0.87[JPT][hapmap]
rs758402	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7924696	0.94[JPT][hapmap]
rs7926335	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7939987	0.94[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16891200-16904600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:16891600-16903600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:16898000-16903600	Enhancers	Gastric	stomach
4	chr11:16898400-16908400	Weak transcription	HepG2	liver
5	chr11:16899200-16903600	Enhancers	Left Ventricle	heart
6	chr11:16899400-16904600	Weak transcription	Placenta	Placenta
7	chr11:16900000-16903600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:16900000-16903600	Enhancers	Pancreas	Pancrea
9	chr11:16900200-16905400	Enhancers	Stomach Mucosa	stomach
10	chr11:16900400-16903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:16900600-16905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:16900800-16903400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:16900800-16905800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:16901000-16903400	Enhancers	Lung	lung
15	chr11:16901000-16903800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:16901200-16904800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:16901400-16904400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:16901600-16903600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:16901600-16903600	Enhancers	Ovary	ovary
20	chr11:16901800-16903600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:16902000-16905800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:16902200-16903400	Active TSS	Right Ventricle	heart
23	chr11:16902400-16903400	Enhancers	Fetal Lung	lung
24	chr11:16902400-16903600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:16902400-16903600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:16902400-16903600	Enhancers	HSMM	muscle
27	chr11:16902400-16903800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:16902400-16903800	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:16902400-16904200	Flanking Active TSS	Fetal Heart	heart
30	chr11:16902600-16903200	Strong transcription	Fetal Intestine Small	intestine
31	chr11:16902600-16903400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:16902600-16903400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:16902600-16903400	Flanking Active TSS	HMEC	breast
34	chr11:16902600-16903400	Enhancers	HSMMtube	muscle
35	chr11:16902600-16903600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:16902600-16903600	Enhancers	Brain Substantia Nigra	brain
37	chr11:16902600-16903800	Enhancers	GM12878-XiMat	blood
38	chr11:16902600-16905200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:16902800-16903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:16902800-16903200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:16902800-16903200	Enhancers	Spleen	Spleen
42	chr11:16902800-16903400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:16902800-16903400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:16902800-16903400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:16902800-16903400	Enhancers	Adipose Nuclei	Adipose
46	chr11:16902800-16903400	Enhancers	Brain Anterior Caudate	brain
47	chr11:16902800-16903400	Enhancers	Fetal Muscle Leg	muscle
48	chr11:16902800-16903400	Enhancers	Rectal Smooth Muscle	rectum
49	chr11:16902800-16903400	Enhancers	NH-A	brain
50	chr11:16902800-16903600	Enhancers	Esophagus	oesophagus

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