Variant report

Variant	rs74098816
Chromosome Location	chr1:85866227-85866228
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85863358..85866240-chr1:85910699..85913658,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56390427	0.81[AFR][1000 genomes]
rs57416273	0.81[AFR][1000 genomes]
rs74096891	0.81[AFR][1000 genomes]
rs74098803	0.81[AFR][1000 genomes]
rs74098805	0.81[AFR][1000 genomes]
rs74098806	0.81[AFR][1000 genomes]
rs74098807	0.88[AFR][1000 genomes]
rs74098808	0.88[AFR][1000 genomes]
rs74098818	1.00[AFR][1000 genomes]
rs74098825	1.00[AFR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3393958	chr1:85857980-85874598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
2	chr1:85855200-85870000	Weak transcription	Fetal Stomach	stomach
3	chr1:85856000-85872800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:85862200-85874600	Weak transcription	Pancreas	Pancrea
5	chr1:85862600-85869000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:85862800-85867000	Enhancers	Liver	Liver
7	chr1:85863400-85866400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:85863600-85867000	Genic enhancers	Osteobl	bone
9	chr1:85864000-85872600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:85864400-85866400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:85864400-85869800	Weak transcription	Aorta	Aorta
12	chr1:85864400-85870600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:85864400-85871000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:85864400-85871800	Weak transcription	NH-A	brain
15	chr1:85864400-85872200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:85864400-85873000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:85864400-85874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:85864600-85870000	Weak transcription	Brain Anterior Caudate	brain
19	chr1:85864800-85866600	Enhancers	Ovary	ovary
20	chr1:85864800-85876800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:85865200-85870000	Weak transcription	Psoas Muscle	Psoas
22	chr1:85865200-85871200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:85865400-85869200	Weak transcription	HUVEC	blood vessel
24	chr1:85865400-85870800	Weak transcription	NHDF-Ad	bronchial
25	chr1:85865400-85871200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:85865400-85871400	Weak transcription	Fetal Lung	lung
27	chr1:85865400-85871400	Weak transcription	HSMM	muscle
28	chr1:85865400-85872800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:85865600-85869800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:85865600-85870800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:85865600-85871600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:85865800-85866400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:85865800-85869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:85865800-85869000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:85865800-85869800	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:85865800-85870200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:85866200-85870800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:85866200-85871000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:85866200-85871000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:85866200-85871600	Weak transcription	Adipose Nuclei	Adipose

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