Variant report

Variant	rs11603841
Chromosome Location	chr11:8834680-8834681
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	SMC3	chr11:8834610-8835805	SK-N-SH	brain:	n/a	chr11:8835305-8835319

No.	Distal block	Cell Line	Cell type
1	chr11:8711214..8713494-chr11:8834662..8837467,3	K562	blood:
2	chr11:8830703..8833043-chr11:8833134..8835525,2	MCF-7	breast:
3	chr11:8702847..8705692-chr11:8833365..8835740,2	MCF-7	breast:
4	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
5	chr11:8831391..8833809-chr11:8833845..8836255,2	K562	blood:
6	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10743093	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs10769958	0.88[CHB][hapmap]
rs10769967	0.96[CEU][hapmap];0.80[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10769968	0.82[EUR][1000 genomes]
rs10769970	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs10769971	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs10769973	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs10769979	0.88[CEU][hapmap]
rs10840130	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10840134	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs10840141	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10840142	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs10840147	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs10840148	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs11042078	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042079	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042082	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042088	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042102	0.84[EUR][1000 genomes]
rs11042103	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs11042149	0.83[CEU][hapmap]
rs11042151	0.88[CEU][hapmap]
rs11042154	0.88[CEU][hapmap]
rs1123936	0.87[CEU][hapmap]
rs12224436	0.80[CEU][hapmap]
rs12421789	0.89[CHB][hapmap]
rs12794444	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1529641	0.95[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1560569	0.88[CEU][hapmap]
rs1569408	0.82[EUR][1000 genomes]
rs1883098	0.82[EUR][1000 genomes]
rs1980428	0.87[CEU][hapmap]
rs1980429	0.88[CEU][hapmap]
rs1988708	0.82[EUR][1000 genomes]
rs1988709	0.84[EUR][1000 genomes]
rs2016942	0.88[CEU][hapmap]
rs2568031	0.81[JPT][hapmap]
rs2568032	0.80[JPT][hapmap]
rs2568043	0.96[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568045	0.87[CEU][hapmap]
rs2568054	0.82[EUR][1000 genomes]
rs2568059	0.84[EUR][1000 genomes]
rs2568061	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2568062	0.83[EUR][1000 genomes]
rs2568065	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs2568090	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2653567	0.82[EUR][1000 genomes]
rs2653570	0.83[CEU][hapmap]
rs2653593	0.83[EUR][1000 genomes]
rs2653605	0.87[CEU][hapmap]
rs2653606	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2653607	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2653616	0.83[EUR][1000 genomes]
rs2742480	0.88[CEU][hapmap]
rs2742536	0.84[CEU][hapmap]
rs2742537	0.91[CEU][hapmap]
rs2742540	0.96[CEU][hapmap];0.84[YRI][hapmap]
rs2742545	0.96[CEU][hapmap]
rs2742550	0.83[EUR][1000 genomes]
rs2742552	0.96[CEU][hapmap]
rs34842234	0.83[EUR][1000 genomes]
rs3763918	0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4554887	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4579928	0.89[CHB][hapmap]
rs4909952	0.88[CEU][hapmap]
rs4910062	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61876187	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486060	0.80[CEU][hapmap]
rs7107867	0.81[AMR][1000 genomes]
rs7119939	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7123429	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs7123861	0.84[EUR][1000 genomes]
rs7479407	0.88[CEU][hapmap]
rs7925728	0.88[CEU][hapmap]
rs7930026	0.88[CEU][hapmap]
rs7937298	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs7943377	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7945705	0.96[CEU][hapmap]
rs978636	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11603841	AKIP1	cis	Thyroid	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8832200-8835000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:8832400-8835000	Weak transcription	HUVEC	blood vessel
3	chr11:8832400-8836800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:8832600-8835000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:8832600-8835200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:8832600-8840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:8832800-8835000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:8832800-8835400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:8832800-8837400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:8833000-8834800	Enhancers	Adipose Nuclei	Adipose
11	chr11:8833000-8834800	Enhancers	Hela-S3	cervix
12	chr11:8833000-8835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:8833000-8835000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:8833000-8835000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:8833000-8835400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:8833000-8835400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:8833000-8835400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:8833000-8835400	Weak transcription	Left Ventricle	heart
19	chr11:8833000-8835400	Weak transcription	Psoas Muscle	Psoas
20	chr11:8833000-8835400	Weak transcription	Right Atrium	heart
21	chr11:8833000-8835400	Weak transcription	Right Ventricle	heart
22	chr11:8833000-8835400	Weak transcription	Small Intestine	intestine
23	chr11:8833000-8835400	Weak transcription	Spleen	Spleen
24	chr11:8833000-8836200	Enhancers	Stomach Mucosa	stomach
25	chr11:8833000-8836400	Enhancers	Colon Smooth Muscle	Colon
26	chr11:8833000-8837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:8833000-8837200	Enhancers	NHDF-Ad	bronchial
28	chr11:8833000-8837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:8833000-8837600	Enhancers	NHLF	lung
30	chr11:8833000-8839200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:8833200-8834800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:8833200-8834800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:8833200-8834800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:8833200-8834800	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:8833200-8834800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:8833200-8835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:8833200-8835000	Weak transcription	Fetal Thymus	thymus
38	chr11:8833200-8835000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:8833200-8835000	Weak transcription	HSMMtube	muscle
40	chr11:8833200-8835000	Weak transcription	NH-A	brain
41	chr11:8833200-8835200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:8833200-8835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:8833200-8835200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:8833200-8835200	Weak transcription	Fetal Heart	heart
45	chr11:8833200-8835200	Weak transcription	Lung	lung
46	chr11:8833200-8835200	Weak transcription	Pancreas	Pancrea
47	chr11:8833200-8835400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:8833200-8835400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:8833200-8835400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:8833200-8835400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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