Variant report

Variant	rs9949861
Chromosome Location	chr18:43970116-43970117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43969322..43971831-chr18:43973623..43976426,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12606026	0.93[CEU][hapmap]
rs12607371	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12607419	0.94[CEU][hapmap]
rs12607488	0.94[CEU][hapmap]
rs12607970	0.94[CEU][hapmap]
rs12608433	0.93[CEU][hapmap]
rs12956271	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12965332	0.94[CEU][hapmap];0.80[GIH][hapmap];0.85[MEX][hapmap]
rs16978558	0.94[CEU][hapmap]
rs16978559	0.94[CEU][hapmap]
rs2886344	1.00[CEU][hapmap]
rs34026934	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34543105	0.81[EUR][1000 genomes]
rs3889942	0.87[CEU][hapmap]
rs7229614	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs7236110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9949033	0.87[CEU][hapmap]
rs9962451	0.94[CEU][hapmap];0.82[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	nsv576812	chr18:43946837-43976847	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43939400-43976600	Weak transcription	Hela-S3	cervix
2	chr18:43949400-43972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:43956400-43978400	Weak transcription	Liver	Liver
4	chr18:43963000-43972600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:43964000-43970400	Enhancers	Fetal Muscle Leg	muscle
6	chr18:43964400-43980800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr18:43966200-43970400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:43967200-43972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:43967400-43970800	Enhancers	Fetal Muscle Trunk	muscle
10	chr18:43967600-43971600	Weak transcription	Fetal Brain Male	brain
11	chr18:43967800-43981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:43968000-43980000	Weak transcription	Brain Germinal Matrix	brain
13	chr18:43968200-43972400	Weak transcription	Right Ventricle	heart
14	chr18:43968200-43975800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:43968200-43977000	Weak transcription	Adipose Nuclei	Adipose
16	chr18:43968400-43971800	Weak transcription	Fetal Kidney	kidney
17	chr18:43968600-43971200	Weak transcription	Spleen	Spleen
18	chr18:43968600-43971600	Weak transcription	Fetal Lung	lung
19	chr18:43968600-43972400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:43968600-43974000	Weak transcription	Left Ventricle	heart
21	chr18:43968800-43972200	Weak transcription	Fetal Stomach	stomach
22	chr18:43968800-43981400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:43969200-43972000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:43969200-43972800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:43969200-43985200	Weak transcription	Right Atrium	heart
26	chr18:43969400-43971200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:43969400-43977800	Weak transcription	Fetal Heart	heart
28	chr18:43969600-43971800	Weak transcription	Fetal Brain Female	brain
29	chr18:43970000-43971400	Enhancers	Esophagus	oesophagus
30	chr18:43970000-43973600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:43970000-43977200	Weak transcription	Dnd41	blood
32	chr18:43970000-43977800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr18:43970000-43979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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