Variant report

Variant	rs7935091
Chromosome Location	chr11:8729625-8729626
allele	C/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	POLR2A	chr11:8729619-8730220	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:8728912-8729696	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8728472..8730184-chr11:8736680..8739477,2	K562	blood:

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

rs_ID	r²[population]
rs4520599	0.87[AMR][1000 genomes]
rs55931237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57312436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59752192	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59942149	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60449221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61685207	0.82[AFR][1000 genomes]
rs74055113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8713200-8730000	Strong transcription	Liver	Liver
2	chr11:8715400-8733600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:8719600-8737000	Weak transcription	Hela-S3	cervix
4	chr11:8720000-8738200	Weak transcription	Fetal Kidney	kidney
5	chr11:8720200-8731200	Strong transcription	Fetal Intestine Small	intestine
6	chr11:8721600-8737000	Strong transcription	Lung	lung
7	chr11:8721800-8731000	Weak transcription	Small Intestine	intestine
8	chr11:8721800-8736200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:8722000-8730400	Strong transcription	Fetal Lung	lung
10	chr11:8722000-8735800	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr11:8722000-8738800	Weak transcription	A549	lung
12	chr11:8722200-8730600	Strong transcription	Placenta	Placenta
13	chr11:8722200-8731000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:8722200-8731000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:8722200-8735400	Weak transcription	HUVEC	blood vessel
16	chr11:8722400-8738800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:8722600-8730400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:8722800-8730600	Strong transcription	HSMM	muscle
19	chr11:8722800-8730800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:8722800-8730800	Weak transcription	HMEC	breast
21	chr11:8722800-8735600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:8722800-8739200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:8723200-8739200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:8723400-8729800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr11:8723600-8730800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:8723800-8730000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr11:8723800-8730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:8723800-8735800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:8723800-8745200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:8724000-8729800	Strong transcription	Esophagus	oesophagus
31	chr11:8724000-8730000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:8724000-8736800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:8724200-8730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:8725400-8738800	Strong transcription	Gastric	stomach
35	chr11:8725600-8732000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:8726000-8730600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:8728200-8732800	Genic enhancers	Fetal Muscle Leg	muscle
38	chr11:8728400-8731200	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:8728400-8731200	Enhancers	Left Ventricle	heart
40	chr11:8728400-8731400	Enhancers	Brain Angular Gyrus	brain
41	chr11:8728400-8731600	Enhancers	Right Atrium	heart
42	chr11:8728400-8731800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:8728400-8740000	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr11:8728600-8731000	Enhancers	Brain Germinal Matrix	brain
45	chr11:8728600-8734200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:8728800-8729800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr11:8728800-8729800	Strong transcription	HepG2	liver
48	chr11:8728800-8730000	Enhancers	Brain Anterior Caudate	brain
49	chr11:8728800-8730200	Strong transcription	NHEK	skin
50	chr11:8728800-8730400	Enhancers	Fetal Thymus	thymus

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