Variant report

Variant	rs4929935
Chromosome Location	chr11:8787282-8787283
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	GATA3	chr11:8786714-8787300	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr11:8786709-8787335	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr11:8786586-8787387	IMR90	lung:	n/a	chr11:8786766-8786775
4	PBX3	chr11:8786742-8787406	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr11:8786715-8787376	SK-N-SH	brain:	n/a	n/a
6	MAX	chr11:8786787-8787326	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr11:8786639-8787441	SK-N-SH	brain:	n/a	n/a
8	JUND	chr11:8786632-8787389	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8708222..8712147-chr11:8785051..8789387,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255159	TF binding region
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10219216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10219217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2055462	1.00[AMR][1000 genomes]
rs3850931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3850932	1.00[AMR][1000 genomes]
rs4929913	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4929939	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57836157	1.00[AMR][1000 genomes]
rs73408030	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8772400-8788400	Weak transcription	Hela-S3	cervix
2	chr11:8777400-8795800	Enhancers	Rectal Smooth Muscle	rectum
3	chr11:8777600-8787800	Weak transcription	Esophagus	oesophagus
4	chr11:8779600-8799600	Weak transcription	Fetal Brain Male	brain
5	chr11:8780000-8792400	Weak transcription	HepG2	liver
6	chr11:8781400-8787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:8781400-8794600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:8782000-8791600	Enhancers	Colon Smooth Muscle	Colon
9	chr11:8783200-8790000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:8783800-8787800	Weak transcription	Liver	Liver
11	chr11:8783800-8788000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:8783800-8788000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:8783800-8788200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:8783800-8788400	Weak transcription	Fetal Lung	lung
15	chr11:8783800-8788800	Weak transcription	Fetal Kidney	kidney
16	chr11:8784000-8787600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:8784000-8788000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:8784000-8788000	Weak transcription	Brain Substantia Nigra	brain
19	chr11:8784000-8788200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:8784000-8788400	Weak transcription	Brain Anterior Caudate	brain
21	chr11:8784000-8788600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:8784000-8790200	Weak transcription	Small Intestine	intestine
23	chr11:8784000-8794200	Weak transcription	Colonic Mucosa	Colon
24	chr11:8784400-8788000	Weak transcription	Psoas Muscle	Psoas
25	chr11:8785000-8788600	Enhancers	HSMMtube	muscle
26	chr11:8785000-8791400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:8785200-8799400	Enhancers	Fetal Heart	heart
28	chr11:8785400-8788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:8786000-8788800	Enhancers	Pancreas	Pancrea
30	chr11:8786200-8788400	Weak transcription	Placenta	Placenta
31	chr11:8786400-8794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:8786600-8787600	Enhancers	Fetal Intestine Large	intestine
33	chr11:8786600-8787600	Enhancers	Fetal Intestine Small	intestine
34	chr11:8786600-8788200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:8786600-8788200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:8786600-8788200	Enhancers	Gastric	stomach
37	chr11:8786600-8788400	Enhancers	HMEC	breast
38	chr11:8786600-8788400	Enhancers	Osteobl	bone
39	chr11:8786600-8788600	Enhancers	NH-A	brain
40	chr11:8786600-8789000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:8786600-8789000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:8786600-8789200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:8786600-8789400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr11:8786600-8789600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:8786600-8789800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:8786600-8790400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr11:8786600-8790400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:8786600-8791200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:8786600-8791200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:8786600-8791400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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