Variant report

Variant	rs12254671
Chromosome Location	chr10:97279475-97279476
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97271514..97273430-chr10:97278974..97280871,3	K562	blood:
2	chr10:97277519..97280426-chr10:97289369..97291949,2	K562	blood:
3	chr10:97274675..97276217-chr10:97279235..97281158,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12240292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12244553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12247017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12772243	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12776555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28419260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34597764	0.88[AFR][1000 genomes]
rs35793106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4918944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4918947	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs749176	1.00[AMR][1000 genomes];0.97[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	esv1808679	chr10:97266478-97316855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97269000-97282600	Weak transcription	Fetal Kidney	kidney
2	chr10:97270600-97283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr10:97271000-97281200	Enhancers	Right Ventricle	heart
4	chr10:97271400-97279800	Enhancers	Fetal Muscle Leg	muscle
5	chr10:97271400-97279800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr10:97271600-97279800	Enhancers	Fetal Heart	heart
7	chr10:97271600-97284600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:97273400-97279800	Enhancers	Colon Smooth Muscle	Colon
9	chr10:97273600-97284000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:97274400-97280400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:97275200-97279800	Enhancers	Brain Anterior Caudate	brain
12	chr10:97275800-97279800	Enhancers	HepG2	liver
13	chr10:97276400-97279600	Enhancers	Liver	Liver
14	chr10:97276600-97279600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:97276600-97279800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:97276600-97283400	Enhancers	Fetal Brain Male	brain
17	chr10:97276800-97280000	Enhancers	Fetal Stomach	stomach
18	chr10:97277000-97284200	Enhancers	Fetal Brain Female	brain
19	chr10:97277200-97279600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:97277200-97279800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr10:97277600-97279600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr10:97277600-97279600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:97277800-97279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr10:97277800-97279800	Enhancers	Brain Angular Gyrus	brain
25	chr10:97277800-97280800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:97278000-97284000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:97278000-97294000	Weak transcription	Esophagus	oesophagus
28	chr10:97278800-97279800	Enhancers	Rectal Smooth Muscle	rectum
29	chr10:97278800-97280400	Weak transcription	Fetal Intestine Small	intestine
30	chr10:97278800-97280800	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:97278800-97282000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:97279000-97279800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr10:97279000-97281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:97279000-97282000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:97279000-97284000	Weak transcription	Psoas Muscle	Psoas
36	chr10:97279000-97284000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr10:97279200-97279600	Weak transcription	Brain Substantia Nigra	brain
38	chr10:97279200-97279600	Enhancers	Stomach Smooth Muscle	stomach
39	chr10:97279200-97280200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:97279200-97280200	Weak transcription	Fetal Intestine Large	intestine
41	chr10:97279200-97280800	Weak transcription	Left Ventricle	heart
42	chr10:97279200-97280800	Weak transcription	Right Atrium	heart
43	chr10:97279200-97281000	Weak transcription	Gastric	stomach
44	chr10:97279200-97281000	Weak transcription	Ovary	ovary
45	chr10:97279200-97281000	Weak transcription	Stomach Mucosa	stomach
46	chr10:97279200-97281800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr10:97279200-97281800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:97279200-97281800	Weak transcription	Brain Germinal Matrix	brain
49	chr10:97279200-97282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:97279200-97282600	Weak transcription	Brain Inferior Temporal Lobe	brain

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