Variant report

Variant	rs11975133
Chromosome Location	chr7:128862009-128862010
allele	A/G
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	chr7:128862000-128862150	HCPEpiC	choroid plexus:	n/a	n/a
2	EBF1	chr7:128861935-128862104	GM12878	blood:	n/a	chr7:128862013-128862024
3	CTCF	chr7:128861960-128862110	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128861593..128863615-chr7:128915544..128917279,2	K562	blood:

Variant related genes	Relation type
AHCYL2	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1061275	0.80[EUR][1000 genomes]
rs1061282	0.80[EUR][1000 genomes]
rs1061283	0.80[EUR][1000 genomes]
rs12706870	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12706872	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12706873	0.80[EUR][1000 genomes]
rs12706874	0.80[EUR][1000 genomes]
rs13221770	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13225516	0.80[EUR][1000 genomes]
rs13226919	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13229264	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13235047	0.88[EUR][1000 genomes]
rs13236334	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13240434	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13240872	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13241894	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13242728	0.80[EUR][1000 genomes]
rs13242765	0.80[EUR][1000 genomes]
rs13244886	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13245719	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2016607	0.80[EUR][1000 genomes]
rs34026893	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34100080	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34134934	0.85[AMR][1000 genomes]
rs34534484	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34535486	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34643315	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34651338	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34659337	0.85[AMR][1000 genomes]
rs34691806	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34698607	0.85[AMR][1000 genomes]
rs34721141	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34853082	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34867290	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34890000	0.80[EUR][1000 genomes]
rs34989446	0.80[EUR][1000 genomes]
rs35120382	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35239026	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35381790	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35386880	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35506900	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35552948	0.80[EUR][1000 genomes]
rs35654453	0.80[EUR][1000 genomes]
rs35678076	0.80[EUR][1000 genomes]
rs35695777	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35730873	0.80[EUR][1000 genomes]
rs35866593	0.80[EUR][1000 genomes]
rs35891284	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36016296	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36033343	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4338039	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71577835	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71577839	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71577849	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71577853	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71577868	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71577869	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71577875	0.80[EUR][1000 genomes]

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	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
4	chr7:128844600-128863800	Weak transcription	Fetal Brain Male	brain
5	chr7:128844800-128864000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:128845800-128863600	Weak transcription	Colonic Mucosa	Colon
7	chr7:128846600-128862200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:128847200-128864000	Weak transcription	Psoas Muscle	Psoas
9	chr7:128847600-128864000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:128849800-128864000	Weak transcription	Fetal Kidney	kidney
11	chr7:128851600-128864200	Weak transcription	Esophagus	oesophagus
12	chr7:128852600-128864000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:128853000-128863800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:128853200-128863600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:128853200-128863800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:128853200-128864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:128853200-128864000	Weak transcription	Fetal Lung	lung
18	chr7:128853400-128864400	Weak transcription	Ovary	ovary
19	chr7:128854200-128864000	Weak transcription	Right Atrium	heart
20	chr7:128855800-128864000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:128856400-128863800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:128858600-128863800	Weak transcription	Liver	Liver
23	chr7:128858600-128863800	Weak transcription	HMEC	breast
24	chr7:128858800-128863800	Weak transcription	Fetal Intestine Large	intestine
25	chr7:128858800-128864000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:128858800-128864000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:128858800-128864000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:128858800-128864000	Weak transcription	Brain Substantia Nigra	brain
29	chr7:128858800-128864000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:128858800-128864000	Weak transcription	Fetal Intestine Small	intestine
31	chr7:128859000-128863800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:128859000-128864000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:128859000-128864000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:128859000-128864000	Weak transcription	Placenta	Placenta
35	chr7:128859000-128864000	Weak transcription	Fetal Stomach	stomach
36	chr7:128861600-128862400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:128861600-128862400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:128861600-128862400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:128861600-128862800	Enhancers	Primary B cells from peripheral blood	blood
40	chr7:128861600-128862800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr7:128861600-128862800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:128861600-128862800	Enhancers	Fetal Thymus	thymus
43	chr7:128861800-128862200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr7:128861800-128862200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr7:128861800-128862200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr7:128861800-128862200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:128861800-128862200	Enhancers	Thymus	Thymus
48	chr7:128861800-128862200	Bivalent/Poised TSS	NHDF-Ad	bronchial
49	chr7:128861800-128862200	Enhancers	Osteobl	bone
50	chr7:128861800-128862400	Flanking Active TSS	Primary T cells from cord blood	blood

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